A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954443



Internal ID17303317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:183788874..183793373hg38UCSC Ensembl
Outerchr2:184653601..184658100hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003089
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954443
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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