A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6510554



Internal ID20883874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31416463..31417669hg38UCSC Ensembl
chr17:29743481..29744687hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381207
hg191207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18034891
Samples
Known GenesRAB11FIP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6510554
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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