A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223



Internal ID15547811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:236440699..236485603hg38UCSC Ensembl
Outerchr2:237349342..237394246hg19UCSC Ensembl
Outerchr2:237014081..237058985hg18UCSC Ensembl
Outerchr2:237131342..237176246hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3844905
hg1944905
hg1844905
hg1744905
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7634
SamplesNA12156
Known GenesIQCA1
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)nsv3223
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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