A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011614



Internal ID19100831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130004371..130151488hg38UCSC Ensembl
Innerchr2:130761944..130909061hg19UCSC Ensembl
Innerchr2:130478414..130625531hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38147118
hg19147118
hg18147118
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4072n100
Supporting Variantsnssv3580813, nssv3580814
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)nsv1011614
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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