A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894896



Internal ID170769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203657887..203657922hg38UCSC Ensembl
chr1:203627015..203627050hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5535746
Supporting Variants
Samples
Known GenesATP2B4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894896
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.010771


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