A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449293



Internal ID22115470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127436145..127436145hg38UCSC Ensembl
chr5:126771837..126771837hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg386139
hg196139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15768485
Samples
Known GenesMEGF10
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449293
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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