A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv679



Internal ID15551734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:39099356..39133020hg38UCSC Ensembl
Outerchr12:39493158..39526822hg19UCSC Ensembl
Outerchr12:37779425..37813089hg18UCSC Ensembl
Outerchr12:37779425..37813089hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg385764
hg195764
hg185764
hg175764
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9020
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)nsv679
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer