A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6464992



Internal ID21122545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64608555..64828363hg38UCSC Ensembl
chr12:65002335..65222143hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38219809
hg19219809
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18194886
Samples
Known GenesGNS, MIR548C, MIR548Z, RASSF3, TBC1D30
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6464992
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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