A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6470333



Internal ID21127886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107811784..108715214hg38UCSC Ensembl
chr12:108205561..109108990hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38903431
hg19903430
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181576
Samples
Known GenesCMKLR1, CORO1C, FICD, ISCU, LOC728739, SART3, SELPLG, TMEM119, WSCD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6470333
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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