A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901749



Internal ID1958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42913336..42913336hg38UCSC Ensembl
chr1:43379007..43379007hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538673
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901749
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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