A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15472



Internal ID15492286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143801891..143809855hg38UCSC Ensembl
Outerchr7:143801287..143810207hg38UCSC Ensembl
Innerchr7:143498984..143506948hg19UCSC Ensembl
Outerchr7:143498380..143507300hg19UCSC Ensembl
Innerchr7:143129917..143137881hg18UCSC Ensembl
Outerchr7:143129313..143138233hg18UCSC Ensembl
Innerchr7:142936632..142944596hg17UCSC Ensembl
Outerchr7:142936028..142944948hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg388921
hg198921
hg188921
hg178921
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
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)nssv15472
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