A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16903032



Internal ID2837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56556978..56557057hg38UCSC Ensembl
chr1:57022651..57022730hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5552540
Supporting Variants
Samples
Known GenesPPAP2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16903032
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.22996


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