A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543060



Internal ID22412125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101402126..101402126hg38UCSC Ensembl
chr1:101867682..101867682hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440991, nssv14386807
SamplesNA19240, HG00733
Known Genes
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)nsv3543060
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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