A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14438309



Internal ID22181440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99190284..99190717hg38UCSC Ensembl
chr7:98787907..98788340hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195710
Supporting Variants
SamplesHG00514
Known GenesKPNA7
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14438309
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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