A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953148



Internal ID17302022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:73020172..73023271hg38UCSC Ensembl
Outerchr2:73247301..73250400hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001753
SamplesBILGI_BIOE
Known GenesSFXN5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953148
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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