nsv471343
- Organism: Homo sapiens
- Study:nstd31 (Alkan et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:3
- Validation:Yes
- Clinical Assertions: No
- Region Size:28,278
- Description:NBPF10
- Publication(s):Alkan et al. 2009
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: 539 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 539 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 53 SVs from 10 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv471343 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 16,563,917 | 16,592,194 |
nsv471343 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 16,890,412 | 16,918,689 |
nsv471343 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 16,635,718 | 16,663,995 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv548025 | Remapped | Perfect | NC_000001.11:g.(16 563917_?)_(?_16592 194)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,563,917 | 16,592,194 |
nssv548026 | Remapped | Perfect | NC_000001.11:g.(16 563917_?)_(?_16592 194)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,563,917 | 16,592,194 |
nssv548027 | Remapped | Perfect | NC_000001.11:g.(16 563917_?)_(?_16592 194)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,563,917 | 16,592,194 |
nssv548025 | Remapped | Perfect | NC_000001.10:g.(16 890412_?)_(?_16918 689)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 16,890,412 | 16,918,689 |
nssv548026 | Remapped | Perfect | NC_000001.10:g.(16 890412_?)_(?_16918 689)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 16,890,412 | 16,918,689 |
nssv548027 | Remapped | Perfect | NC_000001.10:g.(16 890412_?)_(?_16918 689)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 16,890,412 | 16,918,689 |
nssv548025 | Submitted genomic | NC_000001.8:g.(166 35718_?)_(?_166639 95)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 16,635,718 | 16,663,995 | ||
nssv548026 | Submitted genomic | NC_000001.8:g.(166 35718_?)_(?_166639 95)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 16,635,718 | 16,663,995 | ||
nssv548027 | Submitted genomic | NC_000001.8:g.(166 35718_?)_(?_166639 95)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 16,635,718 | 16,663,995 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
nssv548025 | 4 | JDW | Oligo aCGH | Probe signal intensity | Pass |
nssv548026 | 4 | NA18507 | Oligo aCGH | Probe signal intensity | Pass |
nssv548027 | 4 | YH | Oligo aCGH | Probe signal intensity | Pass |