A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966816



Internal ID45203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:70861807..70964500hg38UCSC Ensembl
chr5:70157634..70260327hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38102694
hg19102694
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140721
Supporting Variants
Samples
Known GenesSERF1A, SERF1B, SMN1, SMN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966816
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000938


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