A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999747



Internal ID17292699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:68612321..68643920hg38UCSC Ensembl
Outerchr12:69006101..69037700hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3831600
hg1931600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952200
Supporting Variants
SamplesBILGI_BIOE
Known GenesRAP1B, SNORA70G
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999747
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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