A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188914



Internal ID20755954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41226159..41265257hg38UCSC Ensembl
chr17:39382411..39421509hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3839099
hg1939099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6511585
Supporting Variants
Samples
Known GenesKRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-8, KRTAP9-9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188914
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00033


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