A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3299



Internal ID15547894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:162679831..162697706hg38UCSC Ensembl
Outerchr1:162649621..162667496hg19UCSC Ensembl
Outerchr1:160916245..160934120hg18UCSC Ensembl
Outerchr1:159381279..159399154hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg387296
hg197296
hg187296
hg177296
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10310
SamplesNA18956
Known GenesDDR2
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)nsv3299
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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