nsv3084258
- Organism: Homo sapiens
- Study:nstd144 (Gardner et al. 2017)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,050
- Description:Absence of a L1HS mobile element insertion that is present in the reference
- Publication(s):Gardner et al. 2017
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: 206 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 60 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 206 SVs from 60 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3084258 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 79,966,908 | 79,972,938 |
nsv3084258 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_009646199.1 | Chr5|NW_00 9646199.1 | 109,280 | 115,329 |
nsv3084258 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 80,888,062 | 80,894,092 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv14060887 | line1 deletion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14060887 | Remapped | Perfect | NC_000004.12:g.799 66908_79972938del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 79,966,908 | 79,972,938 |
nssv14060887 | Remapped | Good | NW_009646199.1:g.1 09280_115329del | GRCh38.p12 | Second Pass | NW_009646199.1 | Chr5|NW_00 9646199.1 | 109,280 | 115,329 |
nssv14060887 | Submitted genomic | NC_000004.11:g.808 88062_80894092del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 80,888,062 | 80,894,092 |