A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480753



Internal ID21138306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131112883..131355675hg38UCSC Ensembl
chr12:131597428..131840220hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38242793
hg19242793
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18189342
Samples
Known GenesGPR133, LOC116437, LOC338797
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480753
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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