A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555338



Internal ID22424180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1010910..1010910hg38UCSC Ensembl
chr10:1056850..1056850hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38509
hg19509
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14387344
SamplesNA19240
Known GenesGTPBP4
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)nsv3555338
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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