A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282592



Internal ID22380927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36544078..36544214hg38UCSC Ensembl
chr1:37009679..37009815hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14447580
SamplesHG00733
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)nsv3282592
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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