A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16178



Internal ID15483922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:37833384..38110873hg38UCSC Ensembl
Outerchr7:37830490..38170485hg38UCSC Ensembl
Innerchr7:37872986..38150475hg19UCSC Ensembl
Outerchr7:37870092..38210087hg19UCSC Ensembl
Innerchr7:37839511..38117000hg18UCSC Ensembl
Outerchr7:37836617..38176612hg18UCSC Ensembl
Innerchr7:37646226..37923715hg17UCSC Ensembl
Outerchr7:37643332..37983327hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38339996
hg19339996
hg18339996
hg17339996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8074
Supporting Variants
SamplesNA12155
Known GenesEPDR1, NME8, SFRP4
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)nssv16178
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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