A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16900319



Internal ID1004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28501000..28509163hg38UCSC Ensembl
chr1:28827512..28835675hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg388164
hg198164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138891
Supporting Variants
Samples
Known GenesRCC1, SNHG3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16900319
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000314


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