A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv786



Internal ID15206121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:79760423..79778555hg38UCSC Ensembl
Outerchr12:80154203..80172335hg19UCSC Ensembl
Outerchr12:78678334..78696466hg18UCSC Ensembl
Outerchr12:78656671..78674803hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg387926
hg197926
hg187926
hg177926
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4034, nssv6517, nssv10906
SamplesNA12156, NA12878, NA15510
Known GenesPPP1R12A
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)nsv786
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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