A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005939



Internal ID18748470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32546865..32914281hg38UCSC Ensembl
Innerchr2:32771932..33139348hg19UCSC Ensembl
Innerchr2:32625436..32992852hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38367417
hg19367417
hg18367417
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3727999
Samples
Known GenesBIRC6, LINC00486, MIR4765, TTC27
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005939
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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