A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv689



Internal ID15551844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:45185738..45219450hg38UCSC Ensembl
Outerchr12:45579521..45613233hg19UCSC Ensembl
Outerchr12:43865788..43899500hg18UCSC Ensembl
Outerchr12:43865788..43899500hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg387280
hg197280
hg187280
hg177280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1079
SamplesNA19240
Known GenesANO6, PLEKHA8P1, RNY5
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)nsv689
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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