A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4835



Internal ID15543072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:52682511..52709932hg38UCSC Ensembl
Outerchr5:51978345..52005766hg19UCSC Ensembl
Outerchr5:52014102..52041523hg18UCSC Ensembl
Outerchr5:52014102..52041523hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386912
hg196912
hg186912
hg176912
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4827
Supporting Variants
SamplesNA19129
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)nssv4835
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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