A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16806



Internal ID15482979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143785192..143792784hg38UCSC Ensembl
Outerchr7:143784839..143793824hg38UCSC Ensembl
Innerchr7:143482285..143489877hg19UCSC Ensembl
Outerchr7:143481932..143490917hg19UCSC Ensembl
Innerchr7:143113218..143120810hg18UCSC Ensembl
Outerchr7:143112865..143121850hg18UCSC Ensembl
Innerchr7:142919933..142927525hg17UCSC Ensembl
Outerchr7:142919580..142928565hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg388986
hg198986
hg188986
hg178986
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)nssv16806
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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