A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv675



Internal ID15551690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:38719346..38750024hg38UCSC Ensembl
Outerchr12:39113148..39143826hg19UCSC Ensembl
Outerchr12:37399415..37430093hg18UCSC Ensembl
Outerchr12:37399415..37430093hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg388742
hg198742
hg188742
hg178742
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10860
SamplesNA18956
Known GenesCPNE8
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)nsv675
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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