A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6499605



Internal ID20872826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41093195..41113521hg38UCSC Ensembl
chr17:39249447..39269773hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3820327
hg1920327
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3111n223
Supporting Variantsnssv18189137
Samples
Known GenesKRTAP4-8, KRTAP4-9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6499605
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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