A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv614423



Internal ID16401832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:67036224..67153412hg38UCSC Ensembl
Innerchr9:43659129..43780356hg19UCSC Ensembl
Innerchr9:43599125..43720352hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg38117189
hg19121228
hg18121228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12716n54
Supporting Variantsnssv1134449, nssv1134448
Samples
Known GenesCNTNAP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv614423
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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