A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187033



Internal ID20754073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71526034..71564345hg38UCSC Ensembl
chr11:71237080..71275391hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3838312
hg1938312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6459543
Supporting Variants
Samples
Known GenesKRTAP5-7, KRTAP5-8, KRTAP5-9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187033
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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