A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952195



Internal ID16954382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:62256820..62286919hg38UCSC Ensembl
Outerchr12:62650601..62680700hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3830100
hg1930100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999743
SamplesBILGI_BIOE
Known GenesMIR6125, USP15
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952195
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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