A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4437919



Internal ID22104099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225084811..225084811hg38UCSC Ensembl
chr1:225272513..225272513hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15766914
Samples
Known GenesDNAH14
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4437919
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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