A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753129



Internal ID20528989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241161027..241161027hg38UCSC Ensembl
chr2:242100442..242100442hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16262452
Samples
Known GenesPPP1R7
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753129
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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