nsv471491
- Organism: Homo sapiens
- Study:nstd31 (Alkan et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:97,464
- Description:HLA
- 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: 2929 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 2929 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 260 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 8 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 |
---|---|---|---|---|---|---|---|---|---|
nsv471491 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 32,482,246 | 32,522,507 |
nsv471491 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,722,538 | 3,820,001 |
nsv471491 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 32,450,023 | 32,490,284 |
nsv471491 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_3 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,728,123 | 3,825,586 |
nsv471491 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 32,558,001 | 32,598,262 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv547819 | Remapped | Pass | NT_167245.2:g.(372 2538_?)_(?_3820001 )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,722,538 | 3,820,001 |
nssv547819 | Remapped | Perfect | NC_000006.12:g.(32 482246_?)_(?_32522 507)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,482,246 | 32,522,507 |
nssv547819 | Remapped | Pass | NT_167245.1:g.(372 8123_?)_(?_3825586 )delNT_167245.1:g. (3728123_?)_(?_382 5586)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,728,123 | 3,825,586 |
nssv547819 | Remapped | Perfect | NC_000006.11:g.(32 450023_?)_(?_32490 284)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,450,023 | 32,490,284 |
nssv547819 | Submitted genomic | NC_000006.9:g.(325 58001_?)_(?_325982 62)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 32,558,001 | 32,598,262 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
nssv547819 | 3 | NA18507 | Oligo aCGH | Probe signal intensity | Pass |