A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13937



Internal ID15489459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31391823..31483253hg38UCSC Ensembl
Outerchr6:31391148..31484040hg38UCSC Ensembl
Innerchr6:31359600..31451030hg19UCSC Ensembl
Outerchr6:31358925..31451817hg19UCSC Ensembl
Innerchr6:31467579..31559009hg18UCSC Ensembl
Outerchr6:31466904..31559796hg18UCSC Ensembl
Innerchr6:31467579..31559009hg17UCSC Ensembl
Outerchr6:31466904..31559796hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3892893
hg1992893
hg1892893
hg1792893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10820
Supporting Variants
SamplesNA18563
Known GenesHCG26, HCP5, MICA
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)nssv13937
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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