A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462142



Internal ID21119695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9447401..9448200hg38UCSC Ensembl
chr12:9599997..9600796hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181223
Samples
Known GenesDDX12P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462142
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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