A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973314



Internal ID49589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119458843..119458894hg38UCSC Ensembl
chr5:118794538..118794589hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5399385
Supporting Variants
Samples
Known GenesHSD17B4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973314
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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