A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512852



Internal ID15505588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:65172035..65172205hg38UCSC Ensembl
Outerchr5:64467862..64468032hg19UCSC Ensembl
Outerchr5:64503618..64503788hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg381562
hg191562
hg181562
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625493
Samples1
Known GenesADAMTS6
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512852
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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