A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954005



Internal ID16956192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6203341..6211740hg38UCSC Ensembl
Outerchr1:6263401..6271800hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg388400
hg198400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001634
SamplesBILGI_BIOE
Known GenesRNF207
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954005
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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