A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940704



Internal ID22716116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51936545..51936631hg38UCSC Ensembl
chr17:50013905..50013991hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380816
Samples
Known GenesCA10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940704
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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