A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2602



Internal ID15200479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:9408817..9453535hg38UCSC Ensembl
Outerchr2:9548946..9593664hg19UCSC Ensembl
Outerchr2:9466397..9511115hg18UCSC Ensembl
Outerchr2:9499544..9544262hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3844719
hg1944719
hg1844719
hg1744719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7463
SamplesNA12156
Known GenesCPSF3, ITGB1BP1
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)nsv2602
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