A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001422



Internal ID16947688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:77291250..77298849hg38UCSC Ensembl
Outerchr3:77340401..77348000hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg387600
hg197600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954896
Supporting Variants
SamplesBILGI_BIOE
Known GenesROBO2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001422
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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