A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv658



Internal ID15204817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:30919466..30955715hg38UCSC Ensembl
Outerchr12:31072400..31108649hg19UCSC Ensembl
Outerchr12:30963667..30999916hg18UCSC Ensembl
Outerchr12:30963667..30999916hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3836250
hg1936250
hg1836250
hg1736250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4019
SamplesNA12878
Known GenesTSPAN11
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)nsv658
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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