A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6511408



Internal ID20884735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31395174..31396706hg38UCSC Ensembl
chr17:29722192..29723724hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381533
hg191533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18034888
Samples
Known GenesRAB11FIP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6511408
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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