A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6504452



Internal ID20877713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29557101..29563700hg38UCSC Ensembl
chr17:27884119..27890718hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg386600
hg196600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187635
Samples
Known GenesABHD15
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6504452
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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