A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150245



Internal ID18850562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30192378..30197779hg38UCSC Ensembl
Outerchr16:30203699..30209100hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg385402
hg195402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4003543
SamplesKWB1
Known GenesBOLA2, BOLA2B, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150245
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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