A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125328



Internal ID20692368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138271602..138272037hg38UCSC Ensembl
chr5:137607291..137607726hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6401943
Supporting Variants
Samples
Known GenesGFRA3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125328
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0682


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