A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18052961



Internal ID20620001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150418951..150425523hg38UCSC Ensembl
chr1:150391427..150397999hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg386573
hg196573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6321021
Supporting Variants
Samples
Known GenesRPRD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18052961
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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