A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952606



Internal ID16954793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:193225971..193229670hg38UCSC Ensembl
Outerchr1:193195101..193198800hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999073
SamplesBILGI_BIOE
Known GenesCDC73
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952606
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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