nsv4625424
- 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:902
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: 355 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 262 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 209 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 256 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 25 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 49 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 260 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 312 SVs from 56 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4625424 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,219,864 | 54,220,763 |
nsv4625424 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 194,847 | 195,747 |
nsv4625424 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 194,847 | 195,632 |
nsv4625424 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 194,847 | 195,632 |
nsv4625424 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 194,850 | 195,751 |
nsv4625424 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 194,847 | 195,632 |
nsv4625424 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 194,847 | 195,632 |
nsv4625424 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 194,847 | 195,632 |
nsv4625424 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 194,847 | 195,632 |
nsv4625424 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 194,664 | 195,563 |
nsv4625424 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,723,733 | 54,724,633 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16151882 | duplication | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16151882 | Remapped | Perfect | NT_187693.1:g.(?_1 94847)_(195747_?)d up | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 194,847 | 195,747 |
nssv16151882 | Remapped | Pass | NW_003571061.2:g.( ?_194847)_(195632_ ?)dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 194,847 | 195,632 |
nssv16151882 | Remapped | Pass | NW_003571057.2:g.( ?_194847)_(195632_ ?)dup | GRCh38.p12 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 194,847 | 195,632 |
nssv16151882 | Remapped | Pass | NW_003571058.2:g.( ?_194847)_(195632_ ?)dup | GRCh38.p12 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 194,847 | 195,632 |
nssv16151882 | Remapped | Pass | NW_003571059.2:g.( ?_194847)_(195632_ ?)dup | GRCh38.p12 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 194,847 | 195,632 |
nssv16151882 | Remapped | Good | NW_003571060.1:g.( ?_194850)_(195751_ ?)dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 194,850 | 195,751 |
nssv16151882 | Remapped | Pass | NW_003571056.2:g.( ?_194847)_(195632_ ?)dup | GRCh38.p12 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 194,847 | 195,632 |
nssv16151882 | Remapped | Pass | NW_003571055.2:g.( ?_194847)_(195632_ ?)dup | GRCh38.p12 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 194,847 | 195,632 |
nssv16151882 | Remapped | Good | NW_003571054.1:g.( ?_194664)_(195563_ ?)dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 194,664 | 195,563 |
nssv16151882 | Remapped | Good | NC_000019.10:g.(?_ 54219864)_(5422076 3_?)dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,219,864 | 54,220,763 |
nssv16151882 | Submitted genomic | NC_000019.9:g.(?_5 4723733)_(54724633 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,723,733 | 54,724,633 |
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) |
---|---|---|---|
nssv16151882 | 0.001 | 1 | 845 |