A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896734



Internal ID171969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217460816..217482209hg38UCSC Ensembl
chr1:217634158..217655551hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3821394
hg1921394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446971
Supporting Variants
Samples
Known GenesGPATCH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896734
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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