A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4839



Internal ID15549588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:57500095..57544744hg38UCSC Ensembl
Outerchr5:56795922..56840571hg19UCSC Ensembl
Outerchr5:56831679..56876328hg18UCSC Ensembl
Outerchr5:56831679..56876328hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3844650
hg1944650
hg1844650
hg1744650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8106
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)nsv4839
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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