A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145687



Internal ID344892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47877980..48047980hg38UCSC Ensembl
chr17:45955346..46125342hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38170001
hg19169997
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713521
Samples
Known GenesCDK5RAP3, COPZ2, LOC100506325, MIR152, PNPO, PRR15L, SP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145687
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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