A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16962164



Internal ID42074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17172042..17172042hg38UCSC Ensembl
chr5:17172151..17172151hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381688
hg191688
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543765
Supporting Variants
Samples
Known GenesLOC285696
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16962164
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.137373


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