A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3582133



Internal ID18880414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:81960795..82087496hg38UCSC Ensembl
Innerchr2:82187919..82314620hg19UCSC Ensembl
Innerchr2:82041430..82168131hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38126702
hg19126702
hg18126702
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011104
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3582133
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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