A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3527992



Internal ID18826273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18661498..19637241hg38UCSC Ensembl
Innerchr14:19437975..20105479hg19UCSC Ensembl
Innerchr14:18507975..19175240hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38975744
hg19667505
hg18667266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1052317
Supporting Variants
Samples
Known GenesBMS1P17, BMS1P18, POTEG, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3527992
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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