A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542900



Internal ID22411966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:14152003..14152003hg38UCSC Ensembl
chr6:14152234..14152234hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14460009, nssv14399507
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)nsv3542900
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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