A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9027



Internal ID15534837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:50277087..50322151hg38UCSC Ensembl
Outerchr12:50670870..50715934hg19UCSC Ensembl
Outerchr12:48957137..49002201hg18UCSC Ensembl
Outerchr12:48957137..49002201hg17UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3845065
hg1945065
hg1845065
hg1745065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv702
Supporting Variants
SamplesNA12156
Known GenesLIMA1
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)nssv9027
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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