A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512944



Internal ID15505680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19461479..19461923hg38UCSC Ensembl
Outerchr8:19318990..19319434hg19UCSC Ensembl
Outerchr8:19363270..19363714hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg381083
hg191083
hg181083
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625594
Samples1
Known GenesCSGALNACT1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512944
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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