A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13522



Internal ID15492178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29897859..29900288hg38UCSC Ensembl
Outerchr6:29897239..29904731hg38UCSC Ensembl
Innerchr6:29865636..29868065hg19UCSC Ensembl
Outerchr6:29865016..29872508hg19UCSC Ensembl
Innerchr6:29973615..29976044hg18UCSC Ensembl
Outerchr6:29972995..29980487hg18UCSC Ensembl
Innerchr6:29973615..29976044hg17UCSC Ensembl
Outerchr6:29972995..29980487hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg387493
hg197493
hg187493
hg177493
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10810
Supporting Variants
SamplesNA18942
Known Genes
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)nssv13522
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer