A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv876



Internal ID15552897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:107626794..107661106hg38UCSC Ensembl
Outerchr12:108020571..108054883hg19UCSC Ensembl
Outerchr12:106544701..106579013hg18UCSC Ensembl
Outerchr12:106523038..106557350hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg386690
hg196690
hg186690
hg176690
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1116
SamplesNA19240
Known GenesBTBD11
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)nsv876
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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