A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18135177



Internal ID20702217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83692580..83693196hg38UCSC Ensembl
chr5:82988399..82989015hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38617
hg19617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6413357
Supporting Variants
Samples
Known GenesHAPLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18135177
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00117


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