A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597812



Internal ID16385221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:35505580..35577155hg38UCSC Ensembl
Innerchr5:35505682..35577257hg19UCSC Ensembl
Innerchr5:35541439..35613014hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3871576
hg1971576
hg1871576
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1028949
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597812
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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