A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952223



Internal ID17301097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:160703311..160713410hg38UCSC Ensembl
Outerchr1:160673101..160683200hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3810100
hg1910100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998290
SamplesBILGI_BIOE
Known GenesCD48
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952223
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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