A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5298



Internal ID15203407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:19038881..19076114hg38UCSC Ensembl
Outerchr1:19365375..19402608hg19UCSC Ensembl
Outerchr1:19237962..19275195hg18UCSC Ensembl
Outerchr1:19110681..19147914hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg384684
hg194684
hg184684
hg174684
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5363, nssv3923, nssv2867
SamplesNA12878, NA18555, NA19129
Known GenesUBR4
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)nsv5298
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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