A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001834



Internal ID16948100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12828441..12834849hg38UCSC Ensembl
Outerchr1:12888301..12894700hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg386409
hg196400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955255
Supporting Variants
SamplesBILGI_BIOE
Known GenesPRAMEF11
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001834
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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