A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4437617



Internal ID22103797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53753846..53753846hg38UCSC Ensembl
chr12:54147630..54147630hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15757425
Samples
Known GenesCISTR-ACT
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4437617
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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