A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15334



Internal ID15481809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:30336..34068hg38UCSC Ensembl
Outerchr7:29088..34980hg38UCSC Ensembl
Innerchr7:30336..34068hg19UCSC Ensembl
Outerchr7:29088..34980hg19UCSC Ensembl
Innerchr7:125400..129140hg18UCSC Ensembl
Outerchr7:124152..130052hg18UCSC Ensembl
Innerchr7:125400..129140hg17UCSC Ensembl
Outerchr7:124152..130052hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg385893
hg195893
hg185901
hg175901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8023
Supporting Variants
SamplesNA10839
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)nssv15334
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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