A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149663



Internal ID18853273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:42110797..42115198hg38UCSC Ensembl
Outerchr12:42504599..42509000hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg384402
hg194402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000965
SamplesKWB1
Known GenesGXYLT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149663
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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