A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692651



Internal ID116317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100550337..100550346hg38UCSC Ensembl
chr13:101202591..101202600hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5540984
Supporting Variants
Samples
Known GenesGGACT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692651
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004683


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