A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580860



Internal ID18532455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131271332..131543555hg38UCSC Ensembl
Innerchr2:132028905..132301128hg19UCSC Ensembl
Innerchr2:131745375..132017598hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38272224
hg19272224
hg18272224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014666
Supporting Variants
Samples
Known GenesCCDC74A, LINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, RNU6-81P, TUBA3D, WTH3DI
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3580860
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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