A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6059387



Internal ID21968621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40723129..40723663hg38UCSC Ensembl
chr19:41229034..41229568hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38535
hg19535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17635381
Samples
Known GenesITPKC
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6059387
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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