A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5569122



Internal ID21517476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148881718..148881849hg38UCSC Ensembl
chr2:149639287..149639418hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108807
SamplesNA19238
Known GenesKIF5C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5569122
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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