A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6512982



Internal ID20886322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32278578..32279532hg38UCSC Ensembl
chr17:30605597..30606551hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38955
hg19955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18034942
Samples
Known GenesRHBDL3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6512982
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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