A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9308



Internal ID15193573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12875943..13078670hg38UCSC Ensembl
Outerchr1:12935764..13146118hg19UCSC Ensembl
Outerchr1:12858351..13068705hg18UCSC Ensembl
Outerchr1:12870030..12970101hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38202728
hg19210355
hg18210355
hg17100072
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2965
Supporting Variants
SamplesNA18517
Known GenesPRAMEF10, PRAMEF22, PRAMEF23, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8
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)nssv9308
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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