A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580826



Internal ID18879107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130026698..130176516hg38UCSC Ensembl
Innerchr2:130784271..130934089hg19UCSC Ensembl
Innerchr2:130500741..130650559hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38149819
hg19149819
hg18149819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011360
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)nssv3580826
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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