A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4462



Internal ID15539189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:134208698..134245803hg38UCSC Ensembl
Outerchr2:134966269..135003374hg19UCSC Ensembl
Outerchr2:134682739..134719844hg18UCSC Ensembl
Outerchr2:134800001..134837106hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3837106
hg1937106
hg1837106
hg1737106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2938
Supporting Variants
SamplesNA12878
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)nssv4462
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