A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16262452



Internal ID20471670
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 StatusS
Merged Variantsnsv4753129
Supporting Variants
Samples
Known GenesPPP1R7
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16262452
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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