A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5891994



Internal ID22667038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69295976..69348456hg38UCSC Ensembl
chr5:68591803..68644283hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3852481
hg1952481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424029
Samples
Known GenesCCDC125
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5891994
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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