A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16942871



Internal ID29247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:174265521..174265571hg38UCSC Ensembl
chr3:173983311..173983361hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5534797
Supporting Variants
Samples
Known GenesNLGN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16942871
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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