A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1108



Internal ID15544665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:98708542..98722433hg38UCSC Ensembl
Outerchr12:99102320..99116211hg19UCSC Ensembl
Outerchr12:97626451..97640342hg18UCSC Ensembl
Outerchr12:97604788..97618679hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg387593
hg197593
hg187593
hg177593
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv844
Supporting Variants
SamplesNA19240
Known GenesAPAF1
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)nssv1108
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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