A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16713



Internal ID15481547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:155085181..155087147hg38UCSC Ensembl
Outerchr7:155083939..155088402hg38UCSC Ensembl
Innerchr7:154876891..154878857hg19UCSC Ensembl
Outerchr7:154875649..154880112hg19UCSC Ensembl
Innerchr7:154507824..154509790hg18UCSC Ensembl
Outerchr7:154506582..154511045hg18UCSC Ensembl
Innerchr7:154314539..154316505hg17UCSC Ensembl
Outerchr7:154313297..154317760hg17UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg384464
hg194464
hg184464
hg174464
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8239
Supporting Variants
SamplesNA07048
Known GenesHTR5A
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)nssv16713
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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