A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18126127



Internal ID20693167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147597028..147600984hg38UCSC Ensembl
chr5:146976591..146980547hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg383957
hg193957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6400654
Supporting Variants
Samples
Known GenesJAKMIP2, JAKMIP2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18126127
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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