A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6512005



Internal ID20885335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40492774..40494469hg38UCSC Ensembl
chr17:38649026..38650721hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381696
hg191696
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18196632
Samples
Known GenesTNS4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6512005
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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