nsv6137568
- 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:293,166
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: 624 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 624 SVs from 50 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6137568 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 121,958,953 | 121,958,969 | 122,252,101 | 122,252,118 |
nsv6137568 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 121,092,806 | 121,092,822 | 121,385,954 | 121,385,971 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17677967 | duplication | SAMN20524662 | Sequencing | Paired-end mapping | 1,603 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17677967 | Remapped | Perfect | NC_000023.11:g.(12 1958953_121958969) _(122252101_122252 118)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 121,958,953 | 121,958,969 | 122,252,101 | 122,252,118 |
nssv17677967 | Submitted genomic | NC_000023.10:g.(12 1092806_121092822) _(121385954_121385 971)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 121,092,806 | 121,092,822 | 121,385,954 | 121,385,971 |