A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv763



Internal ID15205972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70214096..70236518hg38UCSC Ensembl
Outerchr12:70607876..70630298hg19UCSC Ensembl
Outerchr12:68894143..68916565hg18UCSC Ensembl
Outerchr12:68894143..68916565hg17UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3822423
hg1922423
hg1822423
hg1722423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9042
SamplesNA12156
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)nsv763
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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