A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001463



Internal ID16947729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:129512558..129602257hg38UCSC Ensembl
Outerchr3:129231401..129321100hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3889700
hg1989700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955346
Supporting Variants
SamplesBILGI_BIOE
Known GenesH1FOO, IFT122, PLXND1, RHO
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001463
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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