A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597810



Internal ID16038533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34948427..35060217hg38UCSC Ensembl
Innerchr5:34948532..35060319hg19UCSC Ensembl
Innerchr5:34984289..35096076hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38111791
hg19111788
hg18111788
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1028947
Samples
Known GenesAGXT2, DNAJC21, PRLR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597810
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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