A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6492454



Internal ID21150007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122694507..122707231hg38UCSC Ensembl
chr12:123179054..123191778hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3812725
hg1912725
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177780
Samples
Known GenesHCAR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6492454
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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