A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6486137



Internal ID21143690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110346226..110395625hg38UCSC Ensembl
chr12:110784031..110833430hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3849400
hg1949400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177604
Samples
Known GenesANAPC7, ATP2A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6486137
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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