A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16899630



Internal ID529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247522257..247522324hg38UCSC Ensembl
chr1:247685559..247685626hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550029
Supporting Variants
Samples
Known GenesGCSAML
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16899630
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.067605


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