A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18131699



Internal ID20698739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54454601..54459518hg38UCSC Ensembl
chr5:53750431..53755348hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg384918
hg194918
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6415062
Supporting Variants
Samples
Known GenesHSPB3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18131699
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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