A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5310



Internal ID15203421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247657184..247714043hg38UCSC Ensembl
Outerchr1:247820486..247877345hg19UCSC Ensembl
Outerchr1:245887109..245943968hg18UCSC Ensembl
Outerchr1:244146527..244203386hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3856860
hg1956860
hg1856860
hg1756860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3848, nssv638, nssv5094, nssv1823
SamplesNA12878, NA18555, NA19240, NA19129
Known GenesOR13G1, OR6F1
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)nsv5310
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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