A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3168



Internal ID15201064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:218536749..218582278hg38UCSC Ensembl
Outerchr2:219401472..219447001hg19UCSC Ensembl
Outerchr2:219109716..219155245hg18UCSC Ensembl
Outerchr2:219226977..219272506hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3845530
hg1945530
hg1845530
hg1745530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6903
SamplesNA12156
Known GenesRQCD1, USP37
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)nsv3168
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