A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625414



Internal ID15848947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:150590125..150591258hg38UCSC Ensembl
Outerchr2:151446639..151447772hg19UCSC Ensembl
Outerchr2:151154885..151156018hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38944
hg19944
hg18944
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512782
Supporting Variants
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)nssv625414
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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