A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv916



Internal ID15206251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124337040..124344235hg38UCSC Ensembl
Outerchr12:124821586..124828781hg19UCSC Ensembl
Outerchr12:123387539..123394734hg18UCSC Ensembl
Outerchr12:123346466..123353661hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386366
hg196366
hg186366
hg176366
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1123
SamplesNA19240
Known GenesMIR6880, NCOR2
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)nsv916
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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