A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6496649



Internal ID20869852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40224275..40228120hg38UCSC Ensembl
chr17:38380527..38384372hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg383846
hg193846
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182466
Samples
Known GenesWIPF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6496649
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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