A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375415



Internal ID22311432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12015513..12293043hg38UCSC Ensembl
chr8:11873022..12150552hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38277531
hg19277531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215725
Supporting Variants
SamplesNA19240
Known GenesDEFB130, FAM66D, FAM86B1, FAM90A2P, LOC100133267, LOC392196, USP17L2, USP17L7, ZNF705D
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14375415
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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