A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148270



Internal ID18853254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124465853..124468954hg38UCSC Ensembl
Outerchr12:124950399..124953500hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383102
hg193102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001780
SamplesKWB1
Known GenesNCOR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148270
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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