A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575016



Internal ID16362425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41055707..41073020hg38UCSC Ensembl
Innerchr17:39211959..39229272hg19UCSC Ensembl
Innerchr17:36465485..36482798hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3817314
hg1917314
hg1817314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv870577
Samples
Known GenesKRTAP2-3, KRTAP2-4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575016
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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