A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv827



Internal ID15552848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:94060016..94093601hg38UCSC Ensembl
Outerchr12:94453792..94487377hg19UCSC Ensembl
Outerchr12:92977923..93011508hg18UCSC Ensembl
Outerchr12:92956260..92989845hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg386114
hg196114
hg186114
hg176114
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039
SamplesNA12878
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)nsv827
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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