A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974077



Internal ID50092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138572262..138572298hg38UCSC Ensembl
chr5:137907951..137907987hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563220
Supporting Variants
Samples
Known GenesHSPA9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974077
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01109


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