A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512760



Internal ID15505496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243480799..243481614hg38UCSC Ensembl
Outerchr1:243644101..243644916hg19UCSC Ensembl
Outerchr1:241710724..241711539hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38933
hg19933
hg18933
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625390
Samples1
Known GenesSDCCAG8
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512760
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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