A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449485



Internal ID22115662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143012537..143012537hg38UCSC Ensembl
chr5:142392102..142392102hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15767522
Samples
Known GenesARHGAP26
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449485
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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