A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9014



Internal ID15188164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26177358..26222253hg38UCSC Ensembl
Outerchr12:26330291..26375186hg19UCSC Ensembl
Outerchr12:26221558..26266453hg18UCSC Ensembl
Outerchr12:26221558..26266453hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3844896
hg1944896
hg1844896
hg1744896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv648
Supporting Variants
SamplesNA12156
Known GenesSSPN
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)nssv9014
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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