A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200986



Internal ID20768026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160690902..160699271hg38UCSC Ensembl
chr1:160660692..160669061hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg388370
hg198370
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333545
Supporting Variants
Samples
Known GenesCD48
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200986
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00037


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