A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930669



Internal ID22705939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59687675..59718418hg38UCSC Ensembl
chr18:57354907..57385650hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg3830744
hg1930744
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380286
Samples
Known GenesCCBE1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930669
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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