A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593



Internal ID15204102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6776987..6821657hg38UCSC Ensembl
Outerchr12:6886153..6930823hg19UCSC Ensembl
Outerchr12:6756414..6801084hg18UCSC Ensembl
Outerchr12:6756414..6801084hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3844671
hg1944671
hg1844671
hg1744671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8996
SamplesNA12156
Known GenesCD4, LAG3
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)nsv593
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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