A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv840



Internal ID15552861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:97457490..97491452hg38UCSC Ensembl
Outerchr12:97851268..97885230hg19UCSC Ensembl
Outerchr12:96375399..96409361hg18UCSC Ensembl
Outerchr12:96353736..96387698hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg385787
hg195787
hg185787
hg175787
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4041
SamplesNA12878
Known GenesRMST
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)nsv840
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