nsv6133531
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:47,563
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: 223 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 234 SVs from 39 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6133531 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 153,545,963 | 153,545,964 | 153,593,522 | 153,593,525 |
nsv6133531 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 153,518,439 | 153,518,440 | 153,565,998 | 153,566,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17682355 | deletion | SAMN20524656 | Sequencing | Paired-end mapping | 419 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17682355 | Remapped | Perfect | NC_000001.11:g.(15 3545963_153545964) _(153593522_153593 525)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 153,545,963 | 153,545,964 | 153,593,522 | 153,593,525 |
nssv17682355 | Submitted genomic | NC_000001.10:g.(15 3518439_153518440) _(153565998_153566 001)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 153,518,439 | 153,518,440 | 153,565,998 | 153,566,001 |