A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14457636



Internal ID22213598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99378119..99378621hg38UCSC Ensembl
chr7:98975742..98976244hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38503
hg19503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198687
Supporting Variants
SamplesHG00733
Known GenesARPC1B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14457636
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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