A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897323



Internal ID172368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222565648..222565683hg38UCSC Ensembl
chr1:222738990..222739025hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545701
Supporting Variants
Samples
Known GenesTAF1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897323
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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