A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472969



Internal ID21130522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57365012..57373877hg38UCSC Ensembl
chr12:57758795..57767660hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg388866
hg198866
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180597
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472969
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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