A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19470



Internal ID15496924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100222686..100271928hg38UCSC Ensembl
Outerchr7:100202193..100272225hg38UCSC Ensembl
Innerchr7:99820309..99869551hg19UCSC Ensembl
Outerchr7:99799816..99869848hg19UCSC Ensembl
Innerchr7:99658245..99707487hg18UCSC Ensembl
Outerchr7:99637752..99707784hg18UCSC Ensembl
Innerchr7:99464960..99514202hg17UCSC Ensembl
Outerchr7:99444467..99514499hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3870033
hg1970033
hg1870033
hg1770033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8182
Supporting Variants
SamplesNA19221
Known GenesGATS, PVRIG, STAG3
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)nssv19470
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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