A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11075



Internal ID15539633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:193405870..193444915hg38UCSC Ensembl
Outerchr3:193123659..193162704hg19UCSC Ensembl
Outerchr3:194606353..194645398hg18UCSC Ensembl
Outerchr3:194606361..194645406hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3839046
hg1939046
hg1839046
hg1739046
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4175
Supporting Variants
SamplesNA15510
Known GenesATP13A4
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)nssv11075
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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