A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951390



Internal ID16953577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109389479..109396078hg38UCSC Ensembl
Outerchr1:109932101..109938700hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg386600
hg196600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997194
SamplesBILGI_BIOE
Known GenesSORT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951390
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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