A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448113



Internal ID22114291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169811765..169811765hg38UCSC Ensembl
chr1:169780906..169780906hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15757452
Samples
Known GenesC1orf112
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448113
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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