A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6505250



Internal ID20878517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29951601..29964539hg38UCSC Ensembl
chr17:28278619..28291557hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3812939
hg1912939
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186348
Samples
Known GenesEFCAB5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6505250
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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