A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474247



Internal ID21131800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79302109..79314788hg38UCSC Ensembl
chr12:79695889..79708568hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3812680
hg1912680
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185709
Samples
Known GenesSYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474247
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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