A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2514



Internal ID15540609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149734198..149769091hg38UCSC Ensembl
Outerchr1:149705748..149740643hg19UCSC Ensembl
Outerchr1:147972372..148007267hg18UCSC Ensembl
Outerchr1:146518821..146553716hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3834894
hg1934896
hg1834896
hg1734896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2777
Supporting Variants
SamplesNA18555
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)nssv2514
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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