A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232



Internal ID15201135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161048043..161050290hg38UCSC Ensembl
Outerchr1:161017833..161020080hg19UCSC Ensembl
Outerchr1:159284457..159286704hg18UCSC Ensembl
Outerchr1:157830906..157833153hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg387884
hg197884
hg187884
hg177884
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2693
SamplesNA18555
Known GenesARHGAP30
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)nsv3232
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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