A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462731



Internal ID21120284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:74232004..74289064hg38UCSC Ensembl
chr12:74625784..74682844hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3857061
hg1957061
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182579
Samples
Known GenesLOC100507377
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462731
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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