A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv642



Internal ID15204641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:24024584..24069361hg38UCSC Ensembl
Outerchr12:24177518..24222295hg19UCSC Ensembl
Outerchr12:24068785..24113562hg18UCSC Ensembl
Outerchr12:24068785..24113562hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3844778
hg1944778
hg1844778
hg1744778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9012
SamplesNA12156
Known GenesSOX5
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)nsv642
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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