A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3173378



Internal ID22332292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99863767..99865940hg38UCSC Ensembl
chr7:99461390..99463563hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382174
hg192174
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14389267
SamplesNA19240
Known GenesCYP3A43
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3173378
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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