A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3820



Internal ID15538547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:229671586..229689122hg38UCSC Ensembl
Outerchr1:229807333..229824869hg19UCSC Ensembl
Outerchr1:227873956..227891492hg18UCSC Ensembl
Outerchr1:226114068..226131604hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3817537
hg1917537
hg1817537
hg1717537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4799
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)nssv3820
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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