A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6464596



Internal ID21122149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103292301..103293300hg38UCSC Ensembl
chr12:103686079..103687078hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17995634
Samples
Known GenesC12orf42
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6464596
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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