A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15196915



Internal ID21335711
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3928716
Supporting Variants
SamplesHG002
Known GenesSEMA6A
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15196915
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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