A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16990457



Internal ID61047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:21000..202000hg38UCSC Ensembl
chr7:21000..202000hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38181001
hg19181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142816
Supporting Variants
Samples
Known GenesFAM20C, LOC100507642
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16990457
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000938


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