A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285326



Internal ID22383703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:156053089..156053168hg38UCSC Ensembl
chr7:155845783..155845862hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14437732
SamplesHG00514
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)nsv3285326
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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