A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv799



Internal ID15552820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:48990224..49022739hg38UCSC Ensembl
Outerchr1:49455896..49488411hg19UCSC Ensembl
Outerchr1:49228483..49260998hg18UCSC Ensembl
Outerchr1:49167916..49200431hg17UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg386747
hg196747
hg186747
hg176747
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5553
SamplesNA19129
Known GenesAGBL4
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)nsv799
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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