A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001780



Internal ID18841863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124465853..124468954hg38UCSC Ensembl
Outerchr12:124950399..124953500hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383102
hg193102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148270
Supporting Variants
SamplesKWB1
Known GenesNCOR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001780
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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