A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14124



Internal ID15840168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32554078..32628264hg38UCSC Ensembl
Outerchr6:32553645..32631700hg38UCSC Ensembl
Innerchr6:32521855..32596041hg19UCSC Ensembl
Outerchr6:32521422..32599477hg19UCSC Ensembl
Innerchr6:32629833..32704019hg18UCSC Ensembl
Outerchr6:32629400..32707455hg18UCSC Ensembl
Innerchr6:32629833..32704019hg17UCSC Ensembl
Outerchr6:32629400..32707455hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3878056
hg1978056
hg1878056
hg1778056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA18975
Known GenesHLA-DRB1, HLA-DRB6
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)nssv14124
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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