A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717077



Internal ID140743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31542161..31542212hg38UCSC Ensembl
chr18:29122124..29122175hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg386007
hg196007
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5562656
Supporting Variants
Samples
Known GenesDSG2, LOC100652770
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717077
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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