A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147184



Internal ID18848952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:30933310..30933403hg38UCSC Ensembl
Outerchr12:31086244..31086337hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999958
SamplesKWB1
Known GenesTSPAN11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147184
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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