nsv443000
- Organism: Homo sapiens
- Study:nstd23 (Young et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:19
- Validation:Yes
- Clinical Assertions: No
- Region Size:8,613
- Description:8.6-kb deletion (fosmid AC193108) removes OR51A2 (also noted by Korbel et al., 2007)
- 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: 589 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 589 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 333 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv443000 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nsv443000 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nsv443000 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1671910 | deletion | GM17035 | Sequencing | Sequence alignment | 0 | 5 |
| nssv1671913 | deletion | GM17036 | Sequencing | Sequence alignment | 0 | 6 |
| nssv1671915 | deletion | GM01805 | Sequencing | Sequence alignment | 0 | nssv1671971, nssv1672002, nssv1672056 |
| nssv1671916 | deletion | GM10542 | Sequencing | Sequence alignment | 0 | nssv1671979, nssv1672031, nssv1672055 |
| nssv1671917 | deletion | GM11525 | Sequencing | Sequence alignment | 0 | nssv1671940, nssv1672025 |
| nssv1671918 | deletion | GM10543 | Sequencing | Sequence alignment | 0 | nssv1671962, nssv1672033, nssv1672053 |
| nssv1671919 | deletion | GM17033 | Sequencing | Sequence alignment | 1 | nssv1671937, nssv1671967, nssv1672012 |
| nssv1671920 | deletion | GM10976 | Sequencing | Sequence alignment | 0 | 5 |
| nssv1671921 | deletion | GM17040 | Sequencing | Sequence alignment | 1 | 6 |
| nssv1671922 | deletion | GM01953 | Sequencing | Sequence alignment | 1 | nssv1671941, nssv1672023 |
| nssv1671923 | deletion | GM17039 | Sequencing | Sequence alignment | 1 | 5 |
| nssv1671924 | deletion | GM17037 | Sequencing | Sequence alignment | 1 | nssv1672047 |
| nssv1671925 | deletion | GM00946 | Sequencing | Sequence alignment | 1 | nssv1671904, nssv1671999, nssv1672048 |
| nssv1671926 | deletion | GM09948 | Sequencing | Sequence alignment | 1 | nssv1671970, nssv1671987, nssv1672019 |
| nssv1671927 | deletion | GM10541 | Sequencing | Sequence alignment | 1 | nssv1671945, nssv1671961 |
| nssv1671928 | deletion | GM10965 | Sequencing | Sequence alignment | 1 | 5 |
| nssv1671931 | deletion | GM11373 | Sequencing | Sequence alignment | 1 | 6 |
| nssv1671932 | deletion | GM10966 | Sequencing | Sequence alignment | 1 | nssv1671955, nssv1672060 |
| nssv1671934 | deletion | GM10979 | Sequencing | Sequence alignment | 1 | nssv1671983, nssv1672000, nssv1672042 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1671910 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671913 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671915 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671916 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671917 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671918 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671919 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671920 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671921 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671922 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671923 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671924 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671925 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671926 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671927 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671928 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671931 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671932 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671934 | Remapped | Perfect | NC_000011.10:g.494 6926_4955538del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,946,926 | 4,955,538 |
| nssv1671910 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671913 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671915 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671916 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671917 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671918 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671919 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671920 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671921 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671922 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671923 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671924 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671925 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671926 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671927 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671928 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671931 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671932 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671934 | Remapped | Perfect | NC_000011.9:g.4968 156_4976768del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 4,968,156 | 4,976,768 |
| nssv1671910 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 | ||
| nssv1671913 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 | ||
| nssv1671915 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 | ||
| nssv1671916 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 | ||
| nssv1671917 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 | ||
| nssv1671918 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 | ||
| nssv1671919 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 | ||
| nssv1671920 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 | ||
| nssv1671921 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 | ||
| nssv1671922 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 | ||
| nssv1671923 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 | ||
| nssv1671924 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 | ||
| nssv1671925 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 | ||
| nssv1671926 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 | ||
| nssv1671927 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 | ||
| nssv1671928 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 | ||
| nssv1671931 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 | ||
| nssv1671932 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 | ||
| nssv1671934 | Submitted genomic | NC_000011.8:g.4924 732_4933344del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 4,924,732 | 4,933,344 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv1671925 | 4 | GM00946 | MLPA | Probe signal intensity | Pass |
| nssv1671915 | 4 | GM01805 | MLPA | Probe signal intensity | Pass |
| nssv1671922 | 4 | GM01953 | MLPA | Probe signal intensity | Pass |
| nssv1671926 | 4 | GM09948 | MLPA | Probe signal intensity | Pass |
| nssv1671927 | 4 | GM10541 | MLPA | Probe signal intensity | Pass |
| nssv1671916 | 4 | GM10542 | MLPA | Probe signal intensity | Pass |
| nssv1671918 | 4 | GM10543 | MLPA | Probe signal intensity | Pass |
| nssv1671928 | 4 | GM10965 | MLPA | Probe signal intensity | Pass |
| nssv1671932 | 4 | GM10966 | MLPA | Probe signal intensity | Pass |
| nssv1671920 | 4 | GM10976 | MLPA | Probe signal intensity | Pass |
| nssv1671934 | 4 | GM10979 | MLPA | Probe signal intensity | Pass |
| nssv1671931 | 4 | GM11373 | MLPA | Probe signal intensity | Pass |
| nssv1671917 | 4 | GM11525 | MLPA | Probe signal intensity | Pass |
| nssv1671919 | 4 | GM17033 | MLPA | Probe signal intensity | Pass |
| nssv1671910 | 4 | GM17035 | MLPA | Probe signal intensity | Pass |
| nssv1671913 | 4 | GM17036 | MLPA | Probe signal intensity | Pass |
| nssv1671924 | 4 | GM17037 | MLPA | Probe signal intensity | Pass |
| nssv1671923 | 4 | GM17039 | MLPA | Probe signal intensity | Pass |
| nssv1671921 | 4 | GM17040 | MLPA | Probe signal intensity | Pass |