A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6060



Internal ID15191118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32039306..32051635hg38UCSC Ensembl
Outerchr6:32007083..32019412hg19UCSC Ensembl
Outerchr6:32115062..32127390hg18UCSC Ensembl
Outerchr6:32115062..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 StatusS
Merged Variantsnsv5248
Supporting Variants
SamplesNA12156
Known GenesCYP21A2, 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)nssv6060
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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