nsv949510
- 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:36,826
- 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: 427 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 277 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 427 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 198 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv949510 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,827,605 | 34,864,430 |
| nsv949510 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 319,934 | 356,759 |
| nsv949510 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 34,829,227 | 34,866,052 |
| nsv949510 | Remapped | Perfect | GRCh37.p13 | PATCHES | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 319,934 | 356,759 |
| nsv949510 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 34,651,793 | 34,688,618 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv2768222 | copy number gain | SNP array | SNP genotyping analysis | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2768222 | Remapped | Perfect | NW_003315915.1:g.( ?_319934)_(356759_ ?)dup | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 319,934 | 356,759 |
| nssv2768222 | Remapped | Perfect | NC_000004.12:g.(?_ 34827605)_(3486443 0_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,827,605 | 34,864,430 |
| nssv2768222 | Remapped | Perfect | NW_003315915.1:g.( ?_319934)_(356759_ ?)dup | GRCh37.p13 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 319,934 | 356,759 |
| nssv2768222 | Remapped | Perfect | NC_000004.11:g.(?_ 34829227)_(3486605 2_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 34,829,227 | 34,866,052 |
| nssv2768222 | Submitted genomic | NC_000004.9:g.(?_3 4651793)_(34688618 _?)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 34,651,793 | 34,688,618 |