A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16842



Internal ID15832626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:13065584..13083222hg38UCSC Ensembl
Outerchr7:13063196..13092007hg38UCSC Ensembl
Innerchr7:13105209..13122847hg19UCSC Ensembl
Outerchr7:13102821..13131632hg19UCSC Ensembl
Innerchr7:13071734..13089372hg18UCSC Ensembl
Outerchr7:13069346..13098157hg18UCSC Ensembl
Innerchr7:12878449..12896087hg17UCSC Ensembl
Outerchr7:12876061..12904872hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3828812
hg1928812
hg1828812
hg1728812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8049
Supporting Variants
SamplesNA18502
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)nssv16842
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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