A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181576



Internal ID20748616
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 StatusS
Merged Variantsnsv6470333
Supporting Variants
Samples
Known GenesCMKLR1, CORO1C, FICD, ISCU, LOC728739, SART3, SELPLG, TMEM119, WSCD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181576
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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