A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950474



Internal ID17299348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:79870084..79875583hg38UCSC Ensembl
Outerchr6:80579801..80585300hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997485
SamplesBILGI_BIOE
Known GenesC6orf7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950474
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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