A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474989



Internal ID21132542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42016216..42054161hg38UCSC Ensembl
chr12:42410018..42447963hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3837946
hg1937946
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18194077
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474989
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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