A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829



Internal ID15552850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:94662644..94696971hg38UCSC Ensembl
Outerchr12:95056420..95090747hg19UCSC Ensembl
Outerchr12:93580551..93614878hg18UCSC Ensembl
Outerchr12:93558888..93593215hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg386660
hg196660
hg186660
hg176660
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1105
SamplesNA19240
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)nsv829
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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