A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8282



Internal ID15535582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:105906516..105940713hg38UCSC Ensembl
Outerchr6:106354391..106388588hg19UCSC Ensembl
Outerchr6:106461084..106495281hg18UCSC Ensembl
Outerchr6:106461084..106495281hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg385230
hg195230
hg185230
hg175230
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428
Supporting Variants
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)nssv8282
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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