A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18126129



Internal ID20693169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147606223..147607604hg38UCSC Ensembl
chr5:146985786..146987167hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381382
hg191382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6402052
Supporting Variants
Samples
Known GenesJAKMIP2, JAKMIP2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18126129
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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