A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv816



Internal ID15552837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:91364315..91397524hg38UCSC Ensembl
Outerchr12:91758092..91791301hg19UCSC Ensembl
Outerchr12:90282223..90315432hg18UCSC Ensembl
Outerchr12:90260560..90293769hg17UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg386231
hg196231
hg186231
hg176231
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9058
SamplesNA12156
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)nsv816
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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