A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6052635



Internal ID21961868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241091488..241091488hg38UCSC Ensembl
chr2:242030903..242030903hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536181
Samples
Known GenesMTERFD2, SNED1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6052635
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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