A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942623



Internal ID22718064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31416461..31417668hg38UCSC Ensembl
chr17:29743479..29744686hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381208
hg191208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376965
Samples
Known GenesRAB11FIP4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942623
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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