A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194299



Internal ID20761339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:43175921..43650339hg38UCSC Ensembl
chr15:43468119..43942537hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg38474419
hg19474419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6496110
Supporting Variants
Samples
Known GenesADAL, CATSPER2, CCNDBP1, CKMT1B, EPB42, LCMT2, MAP1A, PPIP5K1, RNU6-28P, STRC, TGM5, TGM7, TMEM62, TP53BP1, TUBGCP4, ZSCAN29
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194299
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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