A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184233



Internal ID20751273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51283607..51294055hg38UCSC Ensembl
chr10:53043367..53053815hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3810449
hg1910449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6436460
Supporting Variants
Samples
Known GenesPRKG1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184233
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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