A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909246



Internal ID6952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17750919..18037345hg38UCSC Ensembl
chr2:17932186..18218611hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38286427
hg19286426
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440197
Supporting Variants
Samples
Known GenesGEN1, KCNS3, MSGN1, SMC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909246
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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