A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987519



Internal ID21896862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210110405..210113541hg38UCSC Ensembl
chr2:210975129..210978265hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg383137
hg193137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17518055
Samples
Known GenesKANSL1L
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987519
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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