A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4751242



Internal ID20527102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11330719..11330719hg38UCSC Ensembl
chr2:11470845..11470845hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16294860
Samples
Known GenesROCK2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4751242
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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