A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17734718



Internal ID158384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34375808..34493808hg38UCSC Ensembl
chr21:35748107..35866106hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38118001
hg19118000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146954
Supporting Variants
Samples
Known GenesC21orf140, KCNE1, SMIM11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17734718
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.5


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