A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6402193



Internal ID21059746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:96306242..96783190hg38UCSC Ensembl
chr5:95641946..96118894hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38476949
hg19476949
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18135655
Samples
Known GenesCAST, ERAP1, PCSK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6402193
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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