A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6295



Internal ID15551190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:89807943..89841318hg38UCSC Ensembl
Outerchr8:90820171..90853546hg19UCSC Ensembl
Outerchr8:90889316..90922713hg18UCSC Ensembl
Outerchr8:90889316..90922713hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg386044
hg196044
hg186044
hg176044
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8523
SamplesNA12156
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)nsv6295
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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