A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5213



Internal ID15550000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:17119200..17163575hg38UCSC Ensembl
Outerchr6:17119431..17163806hg19UCSC Ensembl
Outerchr6:17227410..17271785hg18UCSC Ensembl
Outerchr6:17227410..17271785hg17UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3844376
hg1944376
hg1844376
hg1744376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2572
SamplesNA18555
Known GenesSTMND1
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)nsv5213
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