nsv948730
- Organism: Homo sapiens
- Study:nstd85 (vanSilfhout et al. 2013)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:247,971
- Publication(s):Vulto-van Silfhout et al. 2013
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: 1067 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1067 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 59 SVs from 9 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv948730 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 54,085,541 | 54,333,511 |
nsv948730 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 55,845,301 | 56,093,271 |
nsv948730 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000010.8 | Chr10 | 55,515,307 | 55,763,277 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Copy number |
---|---|---|---|---|
nssv2767276 | copy number loss | SNP array | SNP genotyping analysis | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv2767276 | Remapped | Perfect | NC_000010.11:g.(?_ 54085541)_(5433351 1_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 54,085,541 | 54,333,511 |
nssv2767276 | Remapped | Perfect | NC_000010.10:g.(?_ 55845301)_(5609327 1_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 55,845,301 | 56,093,271 |
nssv2767276 | Submitted genomic | NC_000010.8:g.(?_5 5515307)_(55763277 _?)del | NCBI35 (hg17) | NC_000010.8 | Chr10 | 55,515,307 | 55,763,277 |