A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4738



Internal ID15549477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:17178158..17223568hg38UCSC Ensembl
Outerchr5:17178267..17223677hg19UCSC Ensembl
Outerchr5:17231267..17276677hg18UCSC Ensembl
Outerchr5:17231267..17276677hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3845411
hg1945411
hg1845411
hg1745411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7147
SamplesNA12156
Known GenesBASP1, LOC285696
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)nsv4738
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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