A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19484



Internal ID15834593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:153786819..153802715hg38UCSC Ensembl
Outerchr7:153786053..153805406hg38UCSC Ensembl
Innerchr7:153483904..153499800hg19UCSC Ensembl
Outerchr7:153483138..153502491hg19UCSC Ensembl
Innerchr7:153114837..153130733hg18UCSC Ensembl
Outerchr7:153114071..153133424hg18UCSC Ensembl
Innerchr7:152921552..152937448hg17UCSC Ensembl
Outerchr7:152920786..152940139hg17UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg3819354
hg1919354
hg1819354
hg1719354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8237
Supporting Variants
SamplesNA18517
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)nssv19484
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