A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4444813



Internal ID22110993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243998721..243998721hg38UCSC Ensembl
chr1:244162023..244162023hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15758734
Samples
Known GenesLOC339529
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4444813
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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