A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv533



Internal ID15550128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:38222856..38237413hg38UCSC Ensembl
Outerchr1:38688528..38703085hg19UCSC Ensembl
Outerchr1:38461115..38475672hg18UCSC Ensembl
Outerchr1:38357621..38372178hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3814558
hg1914558
hg1814558
hg1714558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9028
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)nsv533
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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