A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3538599



Internal ID22407782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74758688..74758688hg38UCSC Ensembl
chr1:75224372..75224372hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14438899, nssv14438900, nssv14413203
SamplesHG00733, HG00514
Known GenesTYW3
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)nsv3538599
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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