nsv1343639
- Organism: Homo sapiens
- Study:nstd122 (Duyzend et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:798,202
- Publication(s):Duyzend et al. 2015
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: 2100 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2777 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 1134 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 36 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 2630 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1048 SVs from 27 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1343639 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 62,308,236 | 62,514,699 |
nsv1343639 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000007.14 | Chr7 | 61,578,038 | 62,376,239 |
nsv1343639 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
nsv1343639 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 334,948 | 610,813 |
nsv1343639 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 61,752,487 | 61,975,077 |
nsv1343639 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 61,389,922 | 61,612,512 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv8348562 | copy number loss | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv8348562 | Remapped | Pass | NC_000007.14:g.(?_ 61578038)_(6237623 9_?)delNC_000007.1 4:g.(?_62180400)_( 62294432_?)delNT_1 87383.1:g.(?_33494 8)_(610813_?)delNC _000007.14:g.(?_62 308236)_(62514699_ ?)del | GRCh38.p12 | Second Pass | NC_000007.14 | Chr7 | 61,578,038 | 62,376,239 |
nssv8348562 | Remapped | Pass | NC_000007.14:g.(?_ 61578038)_(6237623 9_?)delNC_000007.1 4:g.(?_62180400)_( 62294432_?)delNT_1 87383.1:g.(?_33494 8)_(610813_?)delNC _000007.14:g.(?_62 308236)_(62514699_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,180,400 | 62,294,432 |
nssv8348562 | Remapped | Pass | NC_000007.14:g.(?_ 61578038)_(6237623 9_?)delNC_000007.1 4:g.(?_62180400)_( 62294432_?)delNT_1 87383.1:g.(?_33494 8)_(610813_?)delNC _000007.14:g.(?_62 308236)_(62514699_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 62,308,236 | 62,514,699 |
nssv8348562 | Remapped | Pass | NC_000007.14:g.(?_ 61578038)_(6237623 9_?)delNC_000007.1 4:g.(?_62180400)_( 62294432_?)delNT_1 87383.1:g.(?_33494 8)_(610813_?)delNC _000007.14:g.(?_62 308236)_(62514699_ ?)del | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | 334,948 | 610,813 |
nssv8348562 | Remapped | Perfect | NC_000007.13:g.(?_ 61752487)_(6197507 7_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 61,752,487 | 61,975,077 |
nssv8348562 | Submitted genomic | NC_000007.12:g.(?_ 61389922)_(6161251 2_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 61,389,922 | 61,612,512 |