A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4993



Internal ID15203072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:128069522..128109930hg38UCSC Ensembl
Outerchr5:127405214..127445622hg19UCSC Ensembl
Outerchr5:127433113..127473521hg18UCSC Ensembl
Outerchr5:127433113..127473521hg17UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3840409
hg1940409
hg1840409
hg1740409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10473
SamplesNA18956
Known GenesFLJ33630, SLC12A2
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)nsv4993
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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