A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8488



Internal ID15535376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:51233274..51278572hg38UCSC Ensembl
Outerchr8:52145834..52191132hg19UCSC Ensembl
Outerchr8:52308387..52353685hg18UCSC Ensembl
Outerchr8:52308387..52353685hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3845299
hg1945299
hg1845299
hg1745299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6189
Supporting Variants
SamplesNA12156
Known Genes
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)nssv8488
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