A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003132



Internal ID17296084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:348237..356336hg38UCSC Ensembl
Outerchr1:463001..471100hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg388100
hg198100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953222
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003132
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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