A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911485



Internal ID8419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39477822..39702759hg38UCSC Ensembl
chr2:39704963..39929899hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38224938
hg19224937
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443160
Supporting Variants
Samples
Known GenesLOC728730, TMEM178A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911485
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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