nsv6132725
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:36,325
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: 1055 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1055 SVs from 90 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6132725 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 57,178,406 | 57,178,409 | 57,214,727 | 57,214,730 |
nsv6132725 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 57,752,540 | 57,752,543 | 57,788,861 | 57,788,864 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17679690 | deletion | SAMN20524662 | Sequencing | Paired-end mapping | 1,603 |
nssv17682618 | deletion | SAMN20524655 | Sequencing | Paired-end mapping | 909 |
nssv17683408 | deletion | SAMN20524661 | Sequencing | Paired-end mapping | 62 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17679690 | Remapped | Perfect | NC_000013.11:g.(57 178406_57178409)_( 57214727_57214730) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,178,406 | 57,178,409 | 57,214,727 | 57,214,730 |
nssv17682618 | Remapped | Perfect | NC_000013.11:g.(57 178406_57178409)_( 57214727_57214730) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,178,406 | 57,178,409 | 57,214,727 | 57,214,730 |
nssv17683408 | Remapped | Perfect | NC_000013.11:g.(57 178406_57178409)_( 57214727_57214730) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,178,406 | 57,178,409 | 57,214,727 | 57,214,730 |
nssv17679690 | Submitted genomic | NC_000013.10:g.(57 752540_57752543)_( 57788861_57788864) del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,752,540 | 57,752,543 | 57,788,861 | 57,788,864 | ||
nssv17682618 | Submitted genomic | NC_000013.10:g.(57 752540_57752543)_( 57788861_57788864) del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,752,540 | 57,752,543 | 57,788,861 | 57,788,864 | ||
nssv17683408 | Submitted genomic | NC_000013.10:g.(57 752540_57752543)_( 57788861_57788864) del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,752,540 | 57,752,543 | 57,788,861 | 57,788,864 |