A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14034



Internal ID15493333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31984244..32045298hg38UCSC Ensembl
Outerchr6:31983646..32046247hg38UCSC Ensembl
Innerchr6:31952021..32013075hg19UCSC Ensembl
Outerchr6:31951423..32014024hg19UCSC Ensembl
Innerchr6:32060000..32121053hg18UCSC Ensembl
Outerchr6:32059402..32122002hg18UCSC Ensembl
Innerchr6:32060000..32121053hg17UCSC Ensembl
Outerchr6:32059402..32122002hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3862602
hg1962602
hg1862601
hg1762601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10824
Supporting Variants
SamplesNA18975
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, STK19, TNXA, TNXB
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv14034
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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