A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488343



Internal ID21145896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124069490..124202775hg38UCSC Ensembl
chr12:124554037..124687321hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38133286
hg19133285
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195590
Samples
Known GenesZNF664-FAM101A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488343
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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