A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970987



Internal ID47998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93190527..93190563hg38UCSC Ensembl
chr5:92526233..92526269hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5547717
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970987
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002029


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