A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1096



Internal ID15544701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:72053248..72082480hg38UCSC Ensembl
Outerchr12:72447028..72476260hg19UCSC Ensembl
Outerchr12:70733295..70762527hg18UCSC Ensembl
Outerchr12:70733295..70762527hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg386133
hg196133
hg186133
hg176133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv768
Supporting Variants
SamplesNA19240
Known Genes
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)nssv1096
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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