A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv760



Internal ID15205939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:69003771..69058518hg38UCSC Ensembl
Outerchr12:69397551..69452298hg19UCSC Ensembl
Outerchr12:67683818..67738565hg18UCSC Ensembl
Outerchr12:67683818..67738565hg17UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg387178
hg197178
hg187178
hg177178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031, nssv5433
SamplesNA12878, NA19129
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)nsv760
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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