A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14436251



Internal ID22179381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3146070..3146322hg38UCSC Ensembl
chr6:3146304..3146556hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3286143
Supporting Variants
SamplesHG00514
Known GenesBPHL
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)nssv14436251
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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