A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6511585



Internal ID20884914
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 StatusM
Merged Variants
Supporting Variantsnssv18188914
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)nsv6511585
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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