nsv1077741
- Organism: Homo sapiens
- Study:nstd99 (Thareja et al. 2015)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:158
- Publication(s):Thareja 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: 334 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 334 SVs from 45 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1077741 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 158,410,745 | 158,410,902 |
nsv1077741 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187560.1 | Chr7|NT_18 7560.1 | 66,273 | 66,430 |
nsv1077741 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 158,203,437 | 158,203,594 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv3772497 | insertion | KWP1 | Sequencing | Read depth and paired-end mapping | 11,116 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv3772497 | Remapped | Perfect | NT_187560.1:g.(662 73_?)_(?_66430)ins ? | GRCh38.p12 | Second Pass | NT_187560.1 | Chr7|NT_18 7560.1 | 66,273 | 66,430 |
nssv3772497 | Remapped | Perfect | NC_000007.14:g.(15 8410745_?)_(?_1584 10902)ins? | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 158,410,745 | 158,410,902 |
nssv3772497 | Submitted genomic | NC_000007.13:g.(15 8203437_?)_(?_1582 03594)ins(0_?) | GRCh37 (hg19) | NC_000007.13 | Chr7 | 158,203,437 | 158,203,594 |