A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14413209



Internal ID22148496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75885920..75885920hg38UCSC Ensembl
chr1:76351605..76351605hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3542438
Supporting Variants
SamplesHG00514
Known GenesMSH4
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)nssv14413209
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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