A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573047



Internal ID16360456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:76506901..76847728hg38UCSC Ensembl
Innerchr16:76540798..76881625hg19UCSC Ensembl
Innerchr16:75098299..75439126hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38340828
hg19340828
hg18340828
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv860366
Samples
Known GenesCNTNAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv573047
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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