A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583910



Internal ID16371319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:181110525..181175566hg38UCSC Ensembl
Innerchr2:181975252..182040293hg19UCSC Ensembl
Innerchr2:181683497..181748538hg18UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3865042
hg1965042
hg1865042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150791
Samples1780854238_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583910
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer