A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8476



Internal ID15188702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:27238300..27283400hg38UCSC Ensembl
Outerchr8:27095817..27140917hg19UCSC Ensembl
Outerchr8:27151734..27196834hg18UCSC Ensembl
Outerchr8:27151734..27196834hg17UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3845101
hg1945101
hg1845101
hg1745101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6131
Supporting Variants
SamplesNA12156
Known GenesSTMN4
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)nssv8476
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