A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748



Internal ID15549488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:17976657..18009866hg38UCSC Ensembl
Outerchr5:17976766..18009975hg19UCSC Ensembl
Outerchr5:18012523..18045732hg18UCSC Ensembl
Outerchr5:18012523..18045732hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg386229
hg196229
hg186229
hg176229
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8077
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)nsv4748
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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