A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449599



Internal ID22115776
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 StatusM
Merged Variants
Supporting Variantsnssv15759545
Samples
Known GenesMTERFD2, SNED1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449599
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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