A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3899



Internal ID15548554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:187499526..187544890hg38UCSC Ensembl
Outerchr1:187468658..187514022hg19UCSC Ensembl
Outerchr1:185735281..185780645hg18UCSC Ensembl
Outerchr1:184200315..184245679hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3845365
hg1945365
hg1845365
hg1745365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6036
SamplesNA12156
Known Genes
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)nsv3899
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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