A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998172



Internal ID17291124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:33312255..33334154hg38UCSC Ensembl
Outerchr11:33333801..33355700hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3821900
hg1921900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951599
Supporting Variants
SamplesBILGI_BIOE
Known GenesHIPK3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998172
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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