A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950509



Internal ID16952696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:131570461..131576760hg38UCSC Ensembl
Outerchr6:131891601..131897900hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg386300
hg196300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997520
SamplesBILGI_BIOE
Known GenesARG1, MED23
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950509
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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