A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4643



Internal ID15549373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:220224300..220268889hg38UCSC Ensembl
Outerchr1:220397642..220442231hg19UCSC Ensembl
Outerchr1:218464265..218508854hg18UCSC Ensembl
Outerchr1:216786037..216830626hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3844590
hg1944590
hg1844590
hg1744590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1706
SamplesNA18555
Known GenesAURKAPS1, RAB3GAP2
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)nsv4643
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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