nsv4626430
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:83,443
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: 1483 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1216 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 421 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 236 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 236 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 1182 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 237 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 236 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 238 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 1221 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1200 SVs from 88 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4626430 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,154,140 | 54,237,443 |
nsv4626430 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 134,805 | 212,433 |
nsv4626430 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 128,990 | 195,632 |
nsv4626430 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 128,990 | 195,632 |
nsv4626430 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 128,990 | 195,632 |
nsv4626430 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 128,990 | 212,432 |
nsv4626430 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 128,990 | 195,632 |
nsv4626430 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 128,990 | 195,632 |
nsv4626430 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 134,805 | 195,632 |
nsv4626430 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 128,990 | 212,219 |
nsv4626430 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,657,877 | 54,741,319 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16146134 | duplication | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16146134 | Remapped | Pass | NT_187693.1:g.(?_1 34805)_(212433_?)d up | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 134,805 | 212,433 |
nssv16146134 | Remapped | Pass | NW_003571061.2:g.( ?_128990)_(195632_ ?)dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 128,990 | 195,632 |
nssv16146134 | Remapped | Pass | NW_003571057.2:g.( ?_128990)_(195632_ ?)dup | GRCh38.p12 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 128,990 | 195,632 |
nssv16146134 | Remapped | Pass | NW_003571058.2:g.( ?_128990)_(195632_ ?)dup | GRCh38.p12 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 128,990 | 195,632 |
nssv16146134 | Remapped | Pass | NW_003571059.2:g.( ?_128990)_(195632_ ?)dup | GRCh38.p12 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 128,990 | 195,632 |
nssv16146134 | Remapped | Perfect | NW_003571060.1:g.( ?_128990)_(212432_ ?)dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 128,990 | 212,432 |
nssv16146134 | Remapped | Pass | NW_003571056.2:g.( ?_128990)_(195632_ ?)dup | GRCh38.p12 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 128,990 | 195,632 |
nssv16146134 | Remapped | Pass | NW_003571055.2:g.( ?_134805)_(195632_ ?)dup | GRCh38.p12 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 134,805 | 195,632 |
nssv16146134 | Remapped | Good | NW_003571054.1:g.( ?_128990)_(212219_ ?)dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 128,990 | 212,219 |
nssv16146134 | Remapped | Good | NC_000019.10:g.(?_ 54154140)_(5423744 3_?)dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,154,140 | 54,237,443 |
nssv16146134 | Submitted genomic | NC_000019.9:g.(?_5 4657877)_(54741319 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,657,877 | 54,741,319 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
---|---|---|---|
nssv16146134 | <0.001 | 1 | 5919 |