A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3550184



Internal ID22419114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52002583..52002583hg38UCSC Ensembl
chr13:52576719..52576719hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14416893
SamplesHG00514
Known GenesATP7B
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)nsv3550184
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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