A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1151973



Internal ID18853768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1371693..1371758hg38UCSC Ensembl
Outerchr12:1480859..1480924hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999155
SamplesKWB1
Known GenesERC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1151973
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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