A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6490297



Internal ID21147850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119180557..119184147hg38UCSC Ensembl
chr12:119618362..119621952hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg383591
hg193591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997371
Samples
Known GenesHSPB8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6490297
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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