A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1823



Internal ID15194421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247673943..247703658hg38UCSC Ensembl
Outerchr1:247837245..247866960hg19UCSC Ensembl
Outerchr1:245903868..245933583hg18UCSC Ensembl
Outerchr1:244163286..244193001hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3829716
hg1929716
hg1829716
hg1729716
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5310
Supporting Variants
SamplesNA18555
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)nssv1823
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