A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624880



Internal ID15501730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132290140..132291965hg38UCSC Ensembl
Outerchr12:132866726..132868551hg19UCSC Ensembl
Outerchr12:131376799..131378624hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381826
hg191826
hg181826
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512301
Supporting Variants
Samples1
Known GenesGALNT9
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv624880
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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