A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14437991



Internal ID22181089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99180749..99180819hg38UCSC Ensembl
chr7:98778372..98778442hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3284473
Supporting Variants
SamplesHG00514
Known GenesKPNA7
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)nssv14437991
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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