A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150947



Internal ID18856131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1293388..1293621hg38UCSC Ensembl
Outerchr12:1402554..1402787hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001876
SamplesKWB1
Known GenesERC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150947
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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