A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944871



Internal ID22720342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62398096..62398157hg38UCSC Ensembl
chr17:60475457..60475518hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373522
Samples
Known GenesEFCAB3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944871
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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