A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6505128



Internal ID20878394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41046704..41065505hg38UCSC Ensembl
chr17:39202956..39221757hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3818802
hg1918802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193798
Samples
Known GenesKRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP2-4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6505128
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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