A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16945284



Internal ID30863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:198169574..198235000hg38UCSC Ensembl
chr3:197896445..197961871hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3865427
hg1965427
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140125
Supporting Variants
Samples
Known GenesFAM157A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16945284
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000491


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