A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14401563



Internal ID22329213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157411162..157411162hg38UCSC Ensembl
chr7:157203856..157203856hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3532098
Supporting Variants
SamplesNA19240
Known GenesDNAJB6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14401563
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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