A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594



Internal ID15204113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7329134..7363501hg38UCSC Ensembl
Outerchr12:7481730..7516097hg19UCSC Ensembl
Outerchr12:7372997..7407364hg18UCSC Ensembl
Outerchr12:7372997..7407364hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3834368
hg1934368
hg1834368
hg1734368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8997
SamplesNA12156
Known GenesCD163L1
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)nsv594
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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