A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6140275



Internal ID339468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130865574..130875574hg38UCSC Ensembl
chr3:130584418..130594418hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937703
Samples
Known GenesATP2C1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6140275
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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