A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597119



Internal ID16384528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:10552347..10565139hg38UCSC Ensembl
Innerchr5:10552459..10565251hg19UCSC Ensembl
Innerchr5:10605459..10618251hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3812793
hg1912793
hg1812793
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1025210
Samples
Known GenesANKRD33B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597119
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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