A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4444743



Internal ID22110923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240777799..240777799hg38UCSC Ensembl
chr1:240941099..240941099hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15763107
Samples
Known GenesRGS7
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4444743
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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