A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9056



Internal ID15188122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:88133831..88178716hg38UCSC Ensembl
Outerchr12:88527608..88572493hg19UCSC Ensembl
Outerchr12:87051739..87096624hg18UCSC Ensembl
Outerchr12:87030076..87074961hg17UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3844886
hg1944886
hg1844886
hg1744886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv807
Supporting Variants
SamplesNA12156
Known GenesCEP290, TMTC3
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)nssv9056
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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