A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16686



Internal ID15482901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143587473..143595794hg38UCSC Ensembl
Outerchr7:143582396..143596316hg38UCSC Ensembl
Innerchr7:143284566..143292887hg19UCSC Ensembl
Outerchr7:143279489..143293409hg19UCSC Ensembl
Innerchr7:142994688..143003009hg18UCSC Ensembl
Outerchr7:142989611..143003531hg18UCSC Ensembl
Innerchr7:142801403..142809724hg17UCSC Ensembl
Outerchr7:142796326..142810246hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3813921
hg1913921
hg1813921
hg1713921
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA10863
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)nssv16686
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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