A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545717



Internal ID15986440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:18472791..18492207hg38UCSC Ensembl
Innerchr1:18799285..18818701hg19UCSC Ensembl
Innerchr1:18671872..18691288hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3819417
hg1919417
hg1819417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv711246
Samples
Known GenesKLHDC7A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545717
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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