A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580869



Internal ID18532464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131384835..131589090hg38UCSC Ensembl
Innerchr2:132142408..132346663hg19UCSC Ensembl
Innerchr2:131858878..132063133hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38204256
hg19204256
hg18204256
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002963
Supporting Variants
Samples
Known GenesCCDC74A, LINC01120, LOC150776, LOC401010, MIR4784, MZT2A, RNU6-81P, TUBA3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3580869
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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