A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3182



Internal ID15547766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:223679309..223724811hg38UCSC Ensembl
Outerchr2:224544026..224589528hg19UCSC Ensembl
Outerchr2:224252270..224297772hg18UCSC Ensembl
Outerchr2:224369531..224415033hg17UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3845503
hg1945503
hg1845503
hg1745503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6907
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)nsv3182
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