A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3811



Internal ID15201772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48561747..48606376hg38UCSC Ensembl
Outerchr3:48599180..48643809hg19UCSC Ensembl
Outerchr3:48574184..48618813hg18UCSC Ensembl
Outerchr3:48574184..48618813hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3844630
hg1944630
hg1844630
hg1744630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7804
SamplesNA12156
Known GenesCOL7A1, MIR711, UCN2, UQCRC1
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)nsv3811
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