A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv347



Internal ID15201396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:62529596..62571455hg38UCSC Ensembl
Outerchr11:62297068..62338927hg19UCSC Ensembl
Outerchr11:62053644..62095503hg18UCSC Ensembl
Outerchr11:62053644..62095503hg17UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3841860
hg1941860
hg1841860
hg1741860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8920
SamplesNA12156
Known GenesAHNAK, EEF1G, MIR3654, MIR6747
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)nsv347
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