nsv4428906
- 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:78,458
- DGV: gssvL23216
- dbVar: essv6681555
- dbVar: essv6687298
- dbVar: essv6698739
- dbVar: essv6706207
- dbVar: essv6706212
- dbVar: essv6709480
- dbVar: essv6712981
- dbVar: essv6712982
- dbVar: essv6716783
- dbVar: essv6720674
- dbVar: essv6720821
- dbVar: essv6732112
- dbVar: essv6732120
- dbVar: essv6732122
- dbVar: essv6732123
- dbVar: essv6735172
- dbVar: essv6738220
- dbVar: essv6738276
- dbVar: essv6738298
- dbVar: essv6738353
- dbVar: essv6755536
- dbVar: essv6768484
- dbVar: essv6768496
- dbVar: essv6771831
- dbVar: essv6783548
- dbVar: essv6787747
- dbVar: essv6796016
- dbVar: essv6803495
- dbVar: essv6809360
- dbVar: essv6834865
- dbVar: essv6834873
- dbVar: essv6842429
- dbVar: essv6842432
- dbVar: essv6845940
- dbVar: essv6857173
- dbVar: essv6857174
- dbVar: essv6862355
- dbVar: essv6862358
- dbVar: essv6870723
- dbVar: essv6870730
- dbVar: essv6873672
- dbVar: essv6876656
- dbVar: essv6897633
- dbVar: essv6897642
- dbVar: essv6897644
- dbVar: essv6899199
- dbVar: essv6908848
- dbVar: essv6920167
- dbVar: essv6920173
- dbVar: essv6924327
- dbVar: essv6924331
- dbVar: essv6927923
- dbVar: essv6931828
- dbVar: essv6936112
- dbVar: essv6938995
- dbVar: essv6944924
- dbVar: essv6944934
- dbVar: essv6949081
- dbVar: essv6953213
- dbVar: essv6953216
- dbVar: essv6959239
- dbVar: essv6965757
- dbVar: essv6970790
- dbVar: essv6970791
- dbVar: essv6970792
- dbVar: essv6971139
- dbVar: essv6971151
- dbVar: essv6971228
- dbVar: nssv790258
- 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: 1143 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 244 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 277 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 1144 SVs from 91 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4428906 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,076,275 | 11,083,032 | 11,125,954 | 11,137,646 |
nsv4428906 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | 277,341 | 277,341 | 332,626 | 332,626 |
nsv4428906 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 289,843 | 312,966 | 368,300 | 368,300 |
nsv4428906 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 11,228,874 | 11,235,631 | 11,278,553 | 11,290,245 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15718945 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15718945 | Remapped | Pass | NT_187658.1:g.(277 341_277341)_(33262 6_332626)del | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | 277,341 | 277,341 | 332,626 | 332,626 |
nssv15718945 | Remapped | Pass | NW_003571050.1:g.( 289843_312966)_(36 8300_368300)del | GRCh38.p12 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 289,843 | 312,966 | 368,300 | 368,300 |
nssv15718945 | Remapped | Perfect | NC_000012.12:g.(11 076275_11083032)_( 11125954_11137646) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,076,275 | 11,083,032 | 11,125,954 | 11,137,646 |
nssv15718945 | Submitted genomic | NC_000012.11:g.(11 228874_11235631)_( 11278553_11290245) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,228,874 | 11,235,631 | 11,278,553 | 11,290,245 |