A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6456242



Internal ID21113795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66308360..66308929hg38UCSC Ensembl
chr12:66702140..66702709hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38570
hg19570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18003053
Samples
Known GenesHELB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6456242
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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