A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv770



Internal ID15206049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:72222057..72266730hg38UCSC Ensembl
Outerchr12:72615837..72660510hg19UCSC Ensembl
Outerchr12:70902104..70946777hg18UCSC Ensembl
Outerchr12:70902104..70946777hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3844674
hg1944674
hg1844674
hg1744674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9045
SamplesNA12156
Known GenesTRHDE-AS1
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)nsv770
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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