nsv4412440
- Organism: Homo sapiens
- Study:nstd174 (DGV Gold Standard)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,076
- DGV: gssvL5517
- dbVar: essv10152126
- dbVar: essv10152127
- dbVar: essv10152128
- dbVar: essv10152129
- dbVar: essv10152130
- dbVar: essv10152131
- dbVar: essv10152132
- dbVar: essv10152133
- dbVar: essv10152134
- dbVar: essv10152135
- dbVar: essv10152136
- dbVar: essv10152137
- dbVar: essv10152138
- dbVar: essv10152139
- dbVar: essv10152140
- dbVar: essv10152141
- dbVar: essv10152142
- dbVar: essv10152143
- dbVar: essv10152144
- dbVar: essv10152145
- dbVar: essv10152146
- dbVar: essv10152147
- dbVar: essv10152148
- dbVar: essv5483059
- dbVar: essv5517966
- dbVar: essv6125043
- dbVar: essv6126252
- dbVar: essv6217837
- dbVar: essv6370311
- dbVar: essv6423238
- dbVar: essv6578821
- Overlapping Genes
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: 135 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 143 SVs from 32 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4412440 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 155,020,849 | 155,020,853 | 155,021,920 | 155,021,924 |
nsv4412440 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 154,993,325 | 154,993,329 | 154,994,396 | 154,994,400 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15714857 | copy number loss | Multiple | Multiple |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15714857 | Remapped | Perfect | NC_000001.11:g.(15 5020849_155020853) _(155021920_155021 924)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 155,020,849 | 155,020,853 | 155,021,920 | 155,021,924 |
nssv15714857 | Submitted genomic | NC_000001.10:g.(15 4993325_154993329) _(154994396_154994 400)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 154,993,325 | 154,993,329 | 154,994,396 | 154,994,400 |