A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv930



Internal ID15206265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:129065704..129096684hg38UCSC Ensembl
Outerchr12:129550249..129581229hg19UCSC Ensembl
Outerchr12:128116202..128147182hg18UCSC Ensembl
Outerchr12:128075129..128106109hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3830981
hg1930981
hg1830981
hg1730981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6541
SamplesNA12156
Known GenesTMEM132D
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)nsv930
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