nsv443001
- Organism: Homo sapiens
- Study:nstd23 (Young et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:20
- Validation:Yes
- Clinical Assertions: No
- Region Size:24,709
- Description:24.7-kb deletion (fosmid AC193144) removes OR56B2, OR52N5 and half of OR52N1
- Publication(s):Young et al. 2008
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 775 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 775 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 448 SVs from 29 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv443001 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nsv443001 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nsv443001 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv1671929 | deletion | GM17031 | Sequencing | Sequence alignment | 0 | nssv1671998, nssv1672032 |
nssv1671930 | deletion | GM10470 | Sequencing | Sequence alignment | 1 | |
nssv1671933 | deletion | GM10471 | Sequencing | Sequence alignment | 1 | 5 |
nssv1671935 | deletion | GM17035 | Sequencing | Sequence alignment | 1 | 5 |
nssv1671936 | deletion | GM17032 | Sequencing | Sequence alignment | 1 | nssv1672011, nssv1672040 |
nssv1671937 | deletion | GM17033 | Sequencing | Sequence alignment | 1 | nssv1671919, nssv1671967, nssv1672012 |
nssv1671938 | deletion | GM17036 | Sequencing | Sequence alignment | 1 | 6 |
nssv1671939 | deletion | GM17039 | Sequencing | Sequence alignment | 1 | 5 |
nssv1671940 | deletion | GM11525 | Sequencing | Sequence alignment | 1 | nssv1671917, nssv1672025 |
nssv1671941 | deletion | GM01953 | Sequencing | Sequence alignment | 1 | nssv1671922, nssv1672023 |
nssv1671942 | deletion | GM17040 | Sequencing | Sequence alignment | 1 | 6 |
nssv1671943 | deletion | GM00893 | Sequencing | Sequence alignment | 1 | nssv1672014 |
nssv1671944 | deletion | GM11373 | Sequencing | Sequence alignment | 1 | 6 |
nssv1671945 | deletion | GM10541 | Sequencing | Sequence alignment | 1 | nssv1671927, nssv1671961 |
nssv1671946 | deletion | GM11375 | Sequencing | Sequence alignment | 1 | nssv1672003, nssv1672041 |
nssv1671947 | deletion | GM10965 | Sequencing | Sequence alignment | 1 | 5 |
nssv1671948 | deletion | GM10978 | Sequencing | Sequence alignment | 1 | nssv1671964 |
nssv1671949 | deletion | GM10968 | Sequencing | Sequence alignment | 1 | nssv1671980, nssv1672038 |
nssv1671950 | deletion | GM10967 | Sequencing | Sequence alignment | 1 | |
nssv1671955 | deletion | GM10966 | Sequencing | Sequence alignment | 1 | nssv1671932, nssv1672060 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1671929 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671930 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671933 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671935 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671936 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671937 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671938 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671939 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671940 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671941 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671942 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671943 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671944 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671945 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671946 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671947 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671948 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671949 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671950 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671955 | Remapped | Perfect | NC_000011.10:g.576 3345_5788053del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 5,763,345 | 5,788,053 |
nssv1671929 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671930 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671933 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671935 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671936 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671937 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671938 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671939 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671940 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671941 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671942 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671943 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671944 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671945 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671946 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671947 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671948 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671949 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671950 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671955 | Remapped | Perfect | NC_000011.9:g.5784 575_5809283del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,784,575 | 5,809,283 |
nssv1671929 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671930 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671933 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671935 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671936 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671937 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671938 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671939 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671940 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671941 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671942 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671943 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671944 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671945 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671946 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671947 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671948 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671949 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671950 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 | ||
nssv1671955 | Submitted genomic | NC_000011.8:g.5741 151_5765859del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 5,741,151 | 5,765,859 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
nssv1671943 | 4 | GM00893 | MLPA | Probe signal intensity | Pass |
nssv1671941 | 4 | GM01953 | MLPA | Probe signal intensity | Pass |
nssv1671930 | 4 | GM10470 | MLPA | Probe signal intensity | Pass |
nssv1671933 | 4 | GM10471 | MLPA | Probe signal intensity | Pass |
nssv1671945 | 4 | GM10541 | MLPA | Probe signal intensity | Pass |
nssv1671947 | 4 | GM10965 | MLPA | Probe signal intensity | Pass |
nssv1671955 | 4 | GM10966 | MLPA | Probe signal intensity | Pass |
nssv1671950 | 4 | GM10967 | MLPA | Probe signal intensity | Pass |
nssv1671949 | 4 | GM10968 | MLPA | Probe signal intensity | Pass |
nssv1671948 | 4 | GM10978 | MLPA | Probe signal intensity | Pass |
nssv1671944 | 4 | GM11373 | MLPA | Probe signal intensity | Pass |
nssv1671946 | 4 | GM11375 | MLPA | Probe signal intensity | Pass |
nssv1671940 | 4 | GM11525 | MLPA | Probe signal intensity | Pass |
nssv1671929 | 4 | GM17031 | MLPA | Probe signal intensity | Pass |
nssv1671936 | 4 | GM17032 | MLPA | Probe signal intensity | Pass |
nssv1671937 | 4 | GM17033 | MLPA | Probe signal intensity | Pass |
nssv1671935 | 4 | GM17035 | MLPA | Probe signal intensity | Pass |
nssv1671938 | 4 | GM17036 | MLPA | Probe signal intensity | Pass |
nssv1671939 | 4 | GM17039 | MLPA | Probe signal intensity | Pass |
nssv1671942 | 4 | GM17040 | MLPA | Probe signal intensity | Pass |
nssv1671943 | 5 | GM00893 | PCR | Manual observation | Pass |
nssv1671941 | 5 | GM01953 | PCR | Manual observation | Pass |
nssv1671930 | 5 | GM10470 | PCR | Manual observation | Pass |
nssv1671933 | 5 | GM10471 | PCR | Manual observation | Pass |
nssv1671945 | 5 | GM10541 | PCR | Manual observation | Pass |
nssv1671947 | 5 | GM10965 | PCR | Manual observation | Pass |
nssv1671955 | 5 | GM10966 | PCR | Manual observation | Pass |
nssv1671950 | 5 | GM10967 | PCR | Manual observation | Pass |
nssv1671949 | 5 | GM10968 | PCR | Manual observation | Pass |
nssv1671948 | 5 | GM10978 | PCR | Manual observation | Pass |
nssv1671944 | 5 | GM11373 | PCR | Manual observation | Pass |
nssv1671946 | 5 | GM11375 | PCR | Manual observation | Pass |
nssv1671940 | 5 | GM11525 | PCR | Manual observation | Pass |
nssv1671929 | 5 | GM17031 | PCR | Manual observation | Pass |
nssv1671936 | 5 | GM17032 | PCR | Manual observation | Pass |
nssv1671937 | 5 | GM17033 | PCR | Manual observation | Pass |
nssv1671935 | 5 | GM17035 | PCR | Manual observation | Pass |
nssv1671938 | 5 | GM17036 | PCR | Manual observation | Pass |
nssv1671939 | 5 | GM17039 | PCR | Manual observation | Pass |
nssv1671942 | 5 | GM17040 | PCR | Manual observation | Pass |