A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150711



Internal ID18855134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:54101815..54108916hg38UCSC Ensembl
Outerchr12:54495599..54502700hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg387102
hg197102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996185
SamplesKWB1
Known GenesFLJ12825, LOC100240734
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150711
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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