nsv6134873
- 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:48,989
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: 803 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 647 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 803 SVs from 85 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6134873 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,778,333 | 34,778,346 | 34,827,313 | 34,827,321 |
nsv6134873 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,662 | 270,675 | 319,642 | 319,650 |
nsv6134873 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 34,779,955 | 34,779,968 | 34,828,935 | 34,828,943 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17680133 | deletion | SAMN20524659 | Sequencing | Paired-end mapping | 203 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17680133 | Remapped | Perfect | NW_003315915.1:g.( 270662_270675)_(31 9642_319650)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,662 | 270,675 | 319,642 | 319,650 |
nssv17680133 | Remapped | Perfect | NC_000004.12:g.(34 778333_34778346)_( 34827313_34827321) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,778,333 | 34,778,346 | 34,827,313 | 34,827,321 |
nssv17680133 | Submitted genomic | NC_000004.11:g.(34 779955_34779968)_( 34828935_34828943) del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,779,955 | 34,779,968 | 34,828,935 | 34,828,943 |