A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18127161



Internal ID20694201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133078174..133080338hg38UCSC Ensembl
chr5:132413866..132416030hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg382165
hg192165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6412743
Supporting Variants
Samples
Known GenesHSPA4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18127161
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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