nsv3965642
- Organism: Homo sapiens
- Study:nstd168 (Levy-Sakin et al. 2019)
- Variant Type:inversion
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:19,092
- Publication(s):Levy-Sakin et al. 2019
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: 565 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 581 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 24 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 Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|
nsv3965642 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 135,700,262 | - | 135,719,353 | ||
nsv3965642 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 134,833,977 | 134,853,046 | - |
nsv3965642 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070887.1 | ChrX|NW_00 4070887.1 | 631,405 | - | 650,496 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15222349 | inversion | Optical mapping | Optical mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|
nssv15222349 | Submitted genomic | NC_000023.11:g.(13 5700262_?)_(?_1357 19353)inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 135,700,262 | - | 135,719,353 | ||
nssv15222349 | Remapped | Perfect | NW_004070887.1:g.( 631405_?)_(?_65049 6)inv | GRCh37.p13 | First Pass | NW_004070887.1 | ChrX|NW_00 4070887.1 | 631,405 | - | 650,496 |
nssv15222349 | Remapped | Good | NC_000023.10:g.(13 4833977_?)_(134853 046_?)inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 134,833,977 | 134,853,046 | - |