A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518195



Internal ID294592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31502902..31504280hg38UCSC Ensembl
chr17:29829920..29831298hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381379
hg191379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712576
Samples
Known GenesRAB11FIP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518195
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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