A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281952



Internal ID22380281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178505574..178505638hg38UCSC Ensembl
chr1:178474709..178474773hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14460464, nssv14432523
SamplesHG00733, HG00514
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)nsv3281952
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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