A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5010



Internal ID15203091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236796351..236810727hg38UCSC Ensembl
Outerchr1:236959651..236974027hg19UCSC Ensembl
Outerchr1:235026274..235040650hg18UCSC Ensembl
Outerchr1:233285692..233300068hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg385616
hg195616
hg185616
hg175616
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3844
SamplesNA12878
Known GenesMTR
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)nsv5010
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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