A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950507



Internal ID17299381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:129678856..129700055hg38UCSC Ensembl
Outerchr6:130000001..130021200hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3821200
hg1921200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997518
SamplesBILGI_BIOE
Known GenesARHGAP18
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950507
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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