A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16981340



Internal ID54932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36480594..36485572hg38UCSC Ensembl
chr6:36448371..36453349hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg384979
hg194979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459386
Supporting Variants
Samples
Known GenesKCTD20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16981340
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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