A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14436252



Internal ID22179382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3181828..3181936hg38UCSC Ensembl
chr6:3182062..3182170hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3285365
Supporting Variants
SamplesHG00514
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)nssv14436252
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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