nsv511251
- Organism: Homo sapiens
- Study:nstd50 (Arlt et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:50,125
- Publication(s):Arlt et al. 2011
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: 860 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 688 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 860 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 496 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 498 SVs from 30 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv511251 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,778,015 | 34,778,534 | 34,826,880 | 34,828,139 |
nsv511251 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,344 | 270,863 | 319,209 | 320,468 |
nsv511251 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 34,779,637 | 34,780,156 | 34,828,502 | 34,829,761 |
nsv511251 | Remapped | Perfect | GRCh37.p13 | PATCHES | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,344 | 270,863 | 319,209 | 320,468 |
nsv511251 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 34,456,032 | 34,456,551 | 34,504,897 | 34,506,156 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv624688 | copy number loss | 1 | SNP array | SNP genotyping analysis | 2,637 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv624688 | Remapped | Perfect | NW_003315915.1:g.( 270344_270863)_(31 9209_320468)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,344 | 270,863 | 319,209 | 320,468 |
nssv624688 | Remapped | Perfect | NC_000004.12:g.(34 778015_34778534)_( 34826880_34828139) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,778,015 | 34,778,534 | 34,826,880 | 34,828,139 |
nssv624688 | Remapped | Perfect | NW_003315915.1:g.( 270344_270863)_(31 9209_320468)del | GRCh37.p13 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,344 | 270,863 | 319,209 | 320,468 |
nssv624688 | Remapped | Perfect | NC_000004.11:g.(34 779637_34780156)_( 34828502_34829761) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 34,779,637 | 34,780,156 | 34,828,502 | 34,829,761 |
nssv624688 | Submitted genomic | NC_000004.10:g.(34 456032_34456551)_( 34504897_34506156) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 34,456,032 | 34,456,551 | 34,504,897 | 34,506,156 |