A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6496110



Internal ID20869308
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 StatusM
Merged Variants
Supporting Variantsnssv18194299
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)nsv6496110
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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