A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18567



Internal ID15495150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143765556..143820389hg38UCSC Ensembl
Outerchr7:143764616..143820805hg38UCSC Ensembl
Innerchr7:143462649..143517482hg19UCSC Ensembl
Outerchr7:143461709..143517898hg19UCSC Ensembl
Innerchr7:143093582..143148415hg18UCSC Ensembl
Outerchr7:143092642..143148831hg18UCSC Ensembl
Innerchr7:142900297..142955130hg17UCSC Ensembl
Outerchr7:142899357..142955546hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3856190
hg1956190
hg1856190
hg1756190
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA19132
Known GenesLOC154761
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)nssv18567
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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