A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180208



Internal ID20747248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60647825..60693919hg38UCSC Ensembl
chr17:58725186..58771280hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3846095
hg1946095
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6519018
Supporting Variants
Samples
Known GenesBCAS3, PPM1D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180208
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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