A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv712



Internal ID15205411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:53071305..53104120hg38UCSC Ensembl
Outerchr12:53465089..53497904hg19UCSC Ensembl
Outerchr12:51751356..51784171hg18UCSC Ensembl
Outerchr12:51751356..51784171hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg386624
hg196624
hg186624
hg176624
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6506
SamplesNA12156
Known GenesIGFBP6, SOAT2, SPRYD3
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)nsv712
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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