A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453898



Internal ID232008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148881719..148881852hg38UCSC Ensembl
chr2:149639288..149639421hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920466
Samples
Known GenesKIF5C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453898
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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