A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048765



Internal ID19137984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:42503822..42821698hg38UCSC Ensembl
Innerchr14:42973025..43290901hg19UCSC Ensembl
Innerchr14:42042775..42360651hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38317877
hg19317877
hg18317877
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3530215
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048765
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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