A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4828



Internal ID15549576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:53599640..53644449hg38UCSC Ensembl
Outerchr5:52895470..52940279hg19UCSC Ensembl
Outerchr5:52931227..52976036hg18UCSC Ensembl
Outerchr5:52931227..52976036hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3844810
hg1944810
hg1844810
hg1744810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4836
SamplesNA19129
Known GenesNDUFS4
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)nsv4828
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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