A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15196931



Internal ID21335727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137686873..137688197hg38UCSC Ensembl
chr5:137022562..137023886hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381325
hg191325
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3952901
Supporting Variants
SamplesHG002
Known GenesKLHL3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15196931
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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