A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15759545



Internal ID22094025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241091412..241091412hg38UCSC Ensembl
chr2:242030827..242030827hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4449599
Supporting Variants
Samples
Known GenesMTERFD2, SNED1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15759545
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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