A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4820



Internal ID15549568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:51031198..51060054hg38UCSC Ensembl
Outerchr5:50327032..50355888hg19UCSC Ensembl
Outerchr5:50362789..50391645hg18UCSC Ensembl
Outerchr5:50362789..50391645hg17UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3810236
hg1910236
hg1810236
hg1710236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4833
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)nsv4820
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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