A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14385268



Internal ID22299132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84756772..84756772hg38UCSC Ensembl
chr1:85222455..85222455hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3539445
Supporting Variants
SamplesNA19240
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)nssv14385268
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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