A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5609148



Internal ID21557453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20632464..20632464hg38UCSC Ensembl
chr2:20832224..20832224hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg385501
hg195501
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17109992
SamplesHG03732
Known GenesHS1BP3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5609148
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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