A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv741



Internal ID15205730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:62644475..62671066hg38UCSC Ensembl
Outerchr12:63038255..63064846hg19UCSC Ensembl
Outerchr12:61324522..61351113hg18UCSC Ensembl
Outerchr12:61324522..61351113hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3826592
hg1926592
hg1826592
hg1726592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9037
SamplesNA12156
Known GenesPPM1H
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)nsv741
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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