A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511827



Internal ID15851252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:176400513..176407722hg38UCSC Ensembl
Outerchr2:177265241..177272450hg19UCSC Ensembl
Outerchr2:176973487..176980696hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg387210
hg197210
hg187210
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626482
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511827
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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