A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530706



Internal ID22400077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:24574743..24574743hg38UCSC Ensembl
chr5:24574852..24574852hg19UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg38984
hg19984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14459812
SamplesHG00733
Known GenesCDH10
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3530706
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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