A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16956



Internal ID15482886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:150150939..150151609hg38UCSC Ensembl
Outerchr7:150150444..150154309hg38UCSC Ensembl
Innerchr7:149848028..149848698hg19UCSC Ensembl
Outerchr7:149847533..149851398hg19UCSC Ensembl
Innerchr7:149478961..149479631hg18UCSC Ensembl
Outerchr7:149478466..149482331hg18UCSC Ensembl
Innerchr7:149285676..149286346hg17UCSC Ensembl
Outerchr7:149285181..149289046hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383866
hg193866
hg183866
hg173866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8229
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)nssv16956
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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