A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6504348



Internal ID20877609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19946701..19951600hg38UCSC Ensembl
chr17:19850014..19854913hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg384900
hg194900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186908
Samples
Known GenesAKAP10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6504348
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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