A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18126130



Internal ID20693170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147610301..147611800hg38UCSC Ensembl
chr5:146989864..146991363hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6408934
Supporting Variants
Samples
Known GenesJAKMIP2, JAKMIP2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18126130
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00041


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