A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5376



Internal ID15203493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248575503..248609055hg38UCSC Ensembl
Outerchr1:248738804..248772356hg19UCSC Ensembl
Outerchr1:246805427..246838979hg18UCSC Ensembl
Outerchr1:245064845..245098397hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg385886
hg195886
hg185886
hg175886
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8331
SamplesNA12156
Known GenesOR2T10
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)nsv5376
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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