A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9026



Internal ID15534838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:47649478..47694438hg38UCSC Ensembl
Outerchr12:48043261..48088221hg19UCSC Ensembl
Outerchr12:46329528..46374488hg18UCSC Ensembl
Outerchr12:46329528..46374488hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3844961
hg1944961
hg1844961
hg1744961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv695
Supporting Variants
SamplesNA12156
Known GenesRPAP3
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)nssv9026
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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