A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4343



Internal ID15202357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:209756587..209801532hg38UCSC Ensembl
Outerchr1:209929932..209974877hg19UCSC Ensembl
Outerchr1:207996555..208041500hg18UCSC Ensembl
Outerchr1:206318327..206363272hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3844946
hg1944946
hg1844946
hg1744946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8043
SamplesNA12156
Known GenesC1orf74, IRF6, TRAF3IP3
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)nsv4343
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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