A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999685



Internal ID17292637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12403467..12413066hg38UCSC Ensembl
Outerchr12:12556401..12566000hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg389600
hg199600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951329
Supporting Variants
SamplesBILGI_BIOE
Known GenesLOH12CR1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999685
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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