A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511800



Internal ID15851225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:101358590..101360095hg38UCSC Ensembl
Outerchr2:101975052..101976557hg19UCSC Ensembl
Outerchr2:101341484..101342989hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg381506
hg191506
hg181506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626451
Samples1
Known GenesCREG2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511800
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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