A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14428209



Internal ID22169383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:134190923..134190923hg38UCSC Ensembl
chr7:133875675..133875675hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3532260
Supporting Variants
SamplesHG00514
Known GenesLRGUK
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)nssv14428209
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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