A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152914



Internal ID18851637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123753161..123753211hg38UCSC Ensembl
Outerchr12:124237708..124237758hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997947
SamplesKWB1
Known GenesATP6V0A2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152914
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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