nsv4412262
- 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:86,629
- DGV: gssvL86949
- dbVar: essv49529
- dbVar: essv57194
- dbVar: essv7010105
- dbVar: essv7010110
- dbVar: essv7010112
- dbVar: essv7010121
- dbVar: essv7010124
- dbVar: essv7010126
- dbVar: essv7010127
- dbVar: essv7028453
- dbVar: essv7028454
- dbVar: essv72478
- dbVar: nssv11476
- dbVar: nssv12494
- dbVar: nssv28892
- dbVar: nssv3612291
- dbVar: nssv3612292
- dbVar: nssv3612293
- dbVar: nssv3612295
- dbVar: nssv3612296
- dbVar: nssv3612297
- dbVar: nssv3612299
- dbVar: nssv3612300
- dbVar: nssv3612303
- dbVar: nssv3612305
- dbVar: nssv3612307
- dbVar: nssv3612309
- dbVar: nssv3612310
- dbVar: nssv3612316
- dbVar: nssv3612322
- dbVar: nssv3612323
- dbVar: nssv3612328
- dbVar: nssv3612338
- dbVar: nssv3613078
- dbVar: nssv3613081
- dbVar: nssv3613161
- dbVar: nssv3613166
- dbVar: nssv3613171
- dbVar: nssv3613172
- dbVar: nssv3613173
- dbVar: nssv3613174
- dbVar: nssv3613175
- dbVar: nssv3613176
- dbVar: nssv3613180
- dbVar: nssv3613181
- dbVar: nssv3613192
- dbVar: nssv3613196
- dbVar: nssv3613197
- dbVar: nssv3616858
- dbVar: nssv3616868
- dbVar: nssv3616870
- dbVar: nssv3616872
- dbVar: nssv3616873
- dbVar: nssv3616891
- dbVar: nssv3616893
- dbVar: nssv3616895
- dbVar: nssv3616896
- dbVar: nssv3616899
- dbVar: nssv3616900
- dbVar: nssv3616902
- dbVar: nssv3616904
- dbVar: nssv3616905
- dbVar: nssv3616907
- dbVar: nssv3616908
- dbVar: nssv3616909
- dbVar: nssv3616910
- dbVar: nssv3616911
- dbVar: nssv3616912
- dbVar: nssv3616913
- dbVar: nssv3616916
- dbVar: nssv3737028
- dbVar: nssv3737029
- dbVar: nssv3737030
- dbVar: nssv3737031
- dbVar: nssv3737032
- dbVar: nssv3737074
- dbVar: nssv3737082
- dbVar: nssv3737083
- dbVar: nssv3737084
- dbVar: nssv3737088
- dbVar: nssv3737089
- dbVar: nssv3737090
- dbVar: nssv3737106
- dbVar: nssv3737121
- dbVar: nssv3737122
- 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: 1846 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 1084 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1091 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1089 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1141 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1118 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1073 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1143 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1850 SVs from 108 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4412262 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 195,669,246 | 195,681,643 | 195,751,553 | 195,755,499 |
nsv4412262 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 39,237 | 39,237 | 123,716 | 123,716 |
nsv4412262 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 39,237 | 39,237 | 124,428 | 124,428 |
nsv4412262 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 39,237 | 39,237 | 125,865 | 125,865 |
nsv4412262 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 39,743 | 52,140 | 122,050 | 125,996 |
nsv4412262 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 40,552 | 40,552 | 126,798 | 126,798 |
nsv4412262 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 39,237 | 39,237 | 123,154 | 123,154 |
nsv4412262 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 39,743 | 52,140 | 122,050 | 125,996 |
nsv4412262 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,396,117 | 195,408,514 | 195,478,424 | 195,482,370 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15733495 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15733495 | Remapped | Good | NT_187688.1:g.(392 37_39237)_(123716_ 123716)del | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 39,237 | 39,237 | 123,716 | 123,716 |
nssv15733495 | Remapped | Good | NT_187690.1:g.(392 37_39237)_(124428_ 124428)del | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 39,237 | 39,237 | 124,428 | 124,428 |
nssv15733495 | Remapped | Good | NT_187691.1:g.(392 37_39237)_(125865_ 125865)del | GRCh38.p12 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 39,237 | 39,237 | 125,865 | 125,865 |
nssv15733495 | Remapped | Perfect | NT_187689.1:g.(397 43_52140)_(122050_ 125996)del | GRCh38.p12 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 39,743 | 52,140 | 122,050 | 125,996 |
nssv15733495 | Remapped | Good | NT_187678.1:g.(405 52_40552)_(126798_ 126798)del | GRCh38.p12 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 40,552 | 40,552 | 126,798 | 126,798 |
nssv15733495 | Remapped | Good | NT_187649.1:g.(392 37_39237)_(123154_ 123154)del | GRCh38.p12 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 39,237 | 39,237 | 123,154 | 123,154 |
nssv15733495 | Remapped | Perfect | NT_187532.1:g.(397 43_52140)_(122050_ 125996)del | GRCh38.p12 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 39,743 | 52,140 | 122,050 | 125,996 |
nssv15733495 | Remapped | Perfect | NC_000003.12:g.(19 5669246_195681643) _(195751553_195755 499)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,669,246 | 195,681,643 | 195,751,553 | 195,755,499 |
nssv15733495 | Submitted genomic | NC_000003.11:g.(19 5396117_195408514) _(195478424_195482 370)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,396,117 | 195,408,514 | 195,478,424 | 195,482,370 |