A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4812



Internal ID15549559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42086438..42119113hg38UCSC Ensembl
Outerchr5:42086540..42119215hg19UCSC Ensembl
Outerchr5:42122297..42154972hg18UCSC Ensembl
Outerchr5:42122297..42154972hg17UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg386760
hg196760
hg186760
hg176760
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5993
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)nsv4812
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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