A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5248



Internal ID15203352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32028238..32051635hg38UCSC Ensembl
Outerchr6:31996015..32019412hg19UCSC Ensembl
Outerchr6:32103993..32127390hg18UCSC Ensembl
Outerchr6:32103993..32127390hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3825267
hg1925267
hg1825267
hg1725267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4909, nssv6060
SamplesNA12156, NA19129
Known GenesC4A, C4B, C4B_2, CYP21A2, TNXB
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)nsv5248
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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