A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221



Internal ID15201123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161038385..161083189hg38UCSC Ensembl
Outerchr1:161008175..161052979hg19UCSC Ensembl
Outerchr1:159274799..159319603hg18UCSC Ensembl
Outerchr1:157821248..157866052hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3844805
hg1944805
hg1844805
hg1744805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7736
SamplesNA12156
Known GenesARHGAP30, PVRL4, TSTD1, USF1
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)nsv3221
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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