A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555572



Internal ID22424414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91836577..91836577hg38UCSC Ensembl
chr14:92302921..92302921hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14387424
SamplesNA19240
Known GenesTC2N
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)nsv3555572
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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