A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894921



Internal ID170785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203800298..203800300hg38UCSC Ensembl
chr1:203769426..203769428hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409166
Supporting Variants
Samples
Known GenesZBED6, ZC3H11A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894921
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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