A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518604



Internal ID294986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30969851..30977691hg38UCSC Ensembl
chr17:29296869..29304709hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg387841
hg197841
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712543
Samples
Known GenesDPRXP4, RNF135
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518604
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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