A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001486



Internal ID16947752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:153163812..153171511hg38UCSC Ensembl
Outerchr3:152881601..152889300hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg387700
hg197700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954496
Supporting Variants
SamplesBILGI_BIOE
Known GenesRAP2B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001486
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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