A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16942841



Internal ID29227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:173852356..173862272hg38UCSC Ensembl
chr3:173570146..173580062hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg389917
hg199917
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139463
Supporting Variants
Samples
Known GenesNLGN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16942841
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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