A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv822



Internal ID15206157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93350310..93395052hg38UCSC Ensembl
Outerchr12:93744086..93788828hg19UCSC Ensembl
Outerchr12:92268217..92312959hg18UCSC Ensembl
Outerchr12:92246554..92291296hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3844743
hg1944743
hg1844743
hg1744743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9061
SamplesNA12156
Known GenesLOC643339, NUDT4, NUDT4P1, NUDT4P2
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)nsv822
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