A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513345



Internal ID15506081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1621639..1622477hg38UCSC Ensembl
Outerchr12:1730805..1731643hg19UCSC Ensembl
Outerchr12:1601066..1601904hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381074
hg191074
hg181074
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625737
Samples1
Known GenesWNT5B
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513345
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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