A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5951861



Internal ID22727202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137679085..137679085hg38UCSC Ensembl
chr5:137014774..137014774hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38859
hg19859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409972
Samples
Known GenesKLHL3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5951861
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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