A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530913



Internal ID22400280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216050559..216050559hg38UCSC Ensembl
chr1:216223901..216223901hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14441350
SamplesHG00733
Known GenesUSH2A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3530913
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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