A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201857



Internal ID20768898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205106324..205112852hg38UCSC Ensembl
chr1:205075452..205081980hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386529
hg196529
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6320132
Supporting Variants
Samples
Known GenesRBBP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201857
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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