A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999982



Internal ID16946248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:44885960..44910159hg38UCSC Ensembl
Outerchr20:43514601..43538800hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3824200
hg1924200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954044
Supporting Variants
SamplesBILGI_BIOE
Known GenesPABPC1L, YWHAB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999982
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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