nsv2757285
- Organism: Homo sapiens
- Study:nstd130 (Leppa et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:655,316
- Publication(s):Leppa et al. 2016
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: 2710 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1185 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 2326 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 61 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 2733 SVs from 99 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 |
---|---|---|---|---|---|---|---|---|---|
nsv2757285 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000007.14 | Chr7 | 61,771,641 | 62,426,956 |
nsv2757285 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
nsv2757285 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 62,325,464 | 62,524,714 |
nsv2757285 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,112 | 610,898 |
nsv2757285 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 61,769,715 | 61,985,092 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv13635040 | deletion | SNP array | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv13635040 | Remapped | Pass | NC_000007.14:g.(?_ 62325464)_(6252471 4_?)delNC_000007.1 4:g.(?_61771641)_( 62426956_?)delNT_1 87383.1:g.(?_33111 2)_(610898_?)delNC _000007.14:g.(?_62 180400)_(62294432_ ?)del | GRCh38.p12 | Second Pass | NC_000007.14 | Chr7 | 61,771,641 | 62,426,956 |
nssv13635040 | Remapped | Pass | NC_000007.14:g.(?_ 62325464)_(6252471 4_?)delNC_000007.1 4:g.(?_61771641)_( 62426956_?)delNT_1 87383.1:g.(?_33111 2)_(610898_?)delNC _000007.14:g.(?_62 180400)_(62294432_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
nssv13635040 | Remapped | Pass | NC_000007.14:g.(?_ 62325464)_(6252471 4_?)delNC_000007.1 4:g.(?_61771641)_( 62426956_?)delNT_1 87383.1:g.(?_33111 2)_(610898_?)delNC _000007.14:g.(?_62 180400)_(62294432_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,325,464 | 62,524,714 |
nssv13635040 | Remapped | Pass | NC_000007.14:g.(?_ 62325464)_(6252471 4_?)delNC_000007.1 4:g.(?_61771641)_( 62426956_?)delNT_1 87383.1:g.(?_33111 2)_(610898_?)delNC _000007.14:g.(?_62 180400)_(62294432_ ?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 331,112 | 610,898 |
nssv13635040 | Submitted genomic | NC_000007.13:g.(?_ 61769715)_(6198509 2_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,769,715 | 61,985,092 |