A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378952



Internal ID22300083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:45084105..45084345hg38UCSC Ensembl
chr7:45123704..45123944hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3286819
Supporting Variants
SamplesNA19240
Known GenesNACAD
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)nssv14378952
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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