A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1125



Internal ID15544613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:126270355..126306468hg38UCSC Ensembl
Outerchr12:126754901..126791014hg19UCSC Ensembl
Outerchr12:125320854..125356967hg18UCSC Ensembl
Outerchr12:125279781..125315894hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3836114
hg1936114
hg1836114
hg1736114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv923
Supporting Variants
SamplesNA19240
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)nssv1125
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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