A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16995597



Internal ID64505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47585910..47593934hg38UCSC Ensembl
chr7:47625508..47633532hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg388025
hg198025
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141738
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16995597
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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