nsv1078977
- 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:100
- 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: 297 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 23 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 297 SVs from 40 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1078977 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 168,932,356 | 168,932,455 |
nsv1078977 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_004166862.2 | Chr6|NW_00 4166862.2 | 166,533 | 166,632 |
nsv1078977 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 169,332,451 | 169,332,550 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv3766105 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv3766105 | Remapped | Perfect | NW_004166862.2:g.( 166533_?)_(?_16663 2)ins? | GRCh38.p12 | Second Pass | NW_004166862.2 | Chr6|NW_00 4166862.2 | 166,533 | 166,632 |
nssv3766105 | Remapped | Perfect | NC_000006.12:g.(16 8932356_?)_(?_1689 32455)ins? | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 168,932,356 | 168,932,455 |
nssv3766105 | Submitted genomic | NC_000006.11:g.(16 9332451_?)_(?_1693 32550)ins(0_?) | GRCh37 (hg19) | NC_000006.11 | Chr6 | 169,332,451 | 169,332,550 |