A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190612



Internal ID20757652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36432901..36528400hg38UCSC Ensembl
chr17:34801440..34884231hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3895500
hg1982792
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6499640
Supporting Variants
Samples
Known GenesMYO19, TBC1D3G, ZNHIT3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190612
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00074


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