A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8074



Internal ID15499300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:37825738..38170485hg38UCSC Ensembl
Outerchr7:37865340..38210087hg19UCSC Ensembl
Outerchr7:37831865..38176612hg18UCSC Ensembl
Outerchr7:37638580..37983327hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38344748
hg19344748
hg18344748
hg17344748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14844, nssv17233, nssv15017, nssv16178, nssv13871, nssv15809, nssv15170
SamplesNA18975, NA19173, NA12155, NA18563, NA12872, NA18504, NA18853
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)nsv8074
Frequency
Sample Size31
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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