A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040530



Internal ID19129749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:53919424..53960047hg38UCSC Ensembl
Innerchr13:54493559..54534182hg19UCSC Ensembl
Innerchr13:53391560..53432183hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3840624
hg1940624
hg1840624
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523479
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)nsv1040530
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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