A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16059



Internal ID15831404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:29631182..29646430hg38UCSC Ensembl
Outerchr7:29629528..29648579hg38UCSC Ensembl
Innerchr7:29670798..29686046hg19UCSC Ensembl
Outerchr7:29669144..29688195hg19UCSC Ensembl
Innerchr7:29637323..29652571hg18UCSC Ensembl
Outerchr7:29635669..29654720hg18UCSC Ensembl
Innerchr7:29444038..29459286hg17UCSC Ensembl
Outerchr7:29442384..29461435hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3819052
hg1919052
hg1819052
hg1719052
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8072
Supporting Variants
SamplesNA12740
Known GenesLOC646762
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)nssv16059
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