A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6509451



Internal ID20882760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40934745..41023836hg38UCSC Ensembl
chr17:39090997..39180088hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3889092
hg1989092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177744
Samples
Known GenesKRT23, KRT39, KRT40, KRTAP3-1, KRTAP3-2, KRTAP3-3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6509451
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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