A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5991



Internal ID15550856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:145923348..145955208hg38UCSC Ensembl
Outerchr7:145620441..145652301hg19UCSC Ensembl
Outerchr7:145251374..145283234hg18UCSC Ensembl
Outerchr7:145058089..145089949hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg387378
hg197378
hg187378
hg177378
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5030
SamplesNA19129
Known Genes
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)nsv5991
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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