A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4760309



Internal ID20536169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43935869..43935869hg38UCSC Ensembl
chr2:44163008..44163008hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16263694
Samples
Known GenesLRPPRC
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4760309
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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