A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934030



Internal ID22709349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78903527..78994644hg38UCSC Ensembl
chr17:76899609..76990726hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3891118
hg1991118
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376303
Samples
Known GenesCANT1, LGALS3BP, TIMP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934030
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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