A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3556971



Internal ID22425783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1204805..1204805hg38UCSC Ensembl
chr16:1254805..1254805hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14383340
SamplesNA19240
Known GenesCACNA1H
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)nsv3556971
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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