A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6495749



Internal ID20868943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41097785..41140143hg38UCSC Ensembl
chr17:39254037..39296395hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3842359
hg1942359
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177775
Samples
Known GenesKRTAP4-11, KRTAP4-12, KRTAP4-6, KRTAP4-8, KRTAP4-9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6495749
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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