A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2887



Internal ID15541671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:73175302..73209935hg38UCSC Ensembl
Outerchr12:73569082..73603715hg19UCSC Ensembl
Outerchr12:71855349..71889982hg18UCSC Ensembl
Outerchr12:71855349..71889982hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg385364
hg195364
hg185364
hg175364
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv774
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)nssv2887
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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