A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6498239



Internal ID20871447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35062330..35065483hg38UCSC Ensembl
chr17:33389349..33392502hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg383154
hg193154
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191291
Samples
Known GenesRAD51L3-RFFL, RFFL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6498239
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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