A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202095



Internal ID20769136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59143601..59148700hg38UCSC Ensembl
chr1:59609273..59614372hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318191
Supporting Variants
Samples
Known GenesHSD52
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202095
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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