A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18036511



Internal ID20603551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59860875..59861917hg38UCSC Ensembl
chr17:57938236..57939278hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg381043
hg191043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6522108
Supporting Variants
Samples
Known GenesTUBD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18036511
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00011


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