A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580820



Internal ID18879101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130005307..130151488hg38UCSC Ensembl
Innerchr2:130762880..130909061hg19UCSC Ensembl
Innerchr2:130479350..130625531hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38146182
hg19146182
hg18146182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010109
Supporting Variants
Samples
Known GenesCCDC74B, FAR2P1, MED15P9, POTEF, SMPD4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3580820
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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