A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2894



Internal ID15541663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:125314086..125322173hg38UCSC Ensembl
Outerchr12:125798632..125806719hg19UCSC Ensembl
Outerchr12:124364585..124372672hg18UCSC Ensembl
Outerchr12:124323512..124331599hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385836
hg195836
hg185836
hg175836
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv917
Supporting Variants
SamplesNA18555
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv2894
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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