A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998211



Internal ID16944477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:40959865..41019864hg38UCSC Ensembl
Outerchr13:41534001..41594000hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3860000
hg1960000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952542
Supporting Variants
SamplesBILGI_BIOE
Known GenesELF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998211
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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