A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951398



Internal ID17300272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:113865179..113872178hg38UCSC Ensembl
Outerchr1:114407801..114414800hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg387000
hg197000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997202
SamplesBILGI_BIOE
Known GenesAP4B1-AS1, PTPN22
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951398
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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