A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3928716



Internal ID21348786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116558440..116558761hg38UCSC Ensembl
chr5:115894136..115894457hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15196915
SamplesHG002
Known GenesSEMA6A
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3928716
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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