A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513750



Internal ID8820153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:94366384..94379988hg38UCSC Ensembl
Outerchr14:94832721..94846325hg19UCSC Ensembl
Outerchr14:93902474..93916078hg18UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg3813605
hg1913605
hg1813605
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv627002
Samples1
Known GenesSERPINA1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513750
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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