A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4469



Internal ID15192510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109638638..109655816hg38UCSC Ensembl
Outerchr1:110181260..110198438hg19UCSC Ensembl
Outerchr1:109982783..109999961hg18UCSC Ensembl
Outerchr1:109893302..109910480hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3817179
hg1917179
hg1817179
hg1717179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2299
Supporting Variants
SamplesNA12878
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)nssv4469
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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