A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6530125



Internal ID20903486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67238575..67261187hg38UCSC Ensembl
chr17:65234691..65257303hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3822613
hg1922613
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187302
Samples
Known GenesHELZ
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6530125
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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