A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv669



Internal ID15551624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:33209860..33265865hg38UCSC Ensembl
Outerchr12:33362795..33418800hg19UCSC Ensembl
Outerchr12:33254062..33310067hg18UCSC Ensembl
Outerchr12:33254062..33310067hg17UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3856006
hg1956006
hg1856006
hg1756006
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9835, nssv10858, nssv1075, nssv9283, nssv1991, nssv5415
SamplesNA18507, NA18956, NA18555, NA18517, NA19240, NA19129
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)nsv669
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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