A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv782



Internal ID15552803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:78357220..78381911hg38UCSC Ensembl
Outerchr12:78751000..78775691hg19UCSC Ensembl
Outerchr12:77275131..77299822hg18UCSC Ensembl
Outerchr12:77253468..77278159hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg389017
hg199017
hg189017
hg179017
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4033
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)nsv782
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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