A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14462650



Internal ID22215197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62349412..62349548hg38UCSC Ensembl
chr1:62815083..62815219hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3282034
Supporting Variants
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)nssv14462650
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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