A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv656



Internal ID15551481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29930696..29963143hg38UCSC Ensembl
Outerchr12:30083629..30116076hg19UCSC Ensembl
Outerchr12:29974896..30007343hg18UCSC Ensembl
Outerchr12:29974896..30007343hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg387268
hg197268
hg187268
hg177268
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4018
SamplesNA12878
Known Genes
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)nsv656
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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