A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8141



Internal ID15846053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74738033..74741223hg38UCSC Ensembl
Outerchr7:74152375..74155562hg19UCSC Ensembl
Outerchr7:73790311..73793498hg18UCSC Ensembl
Outerchr7:73597026..73600213hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383191
hg193188
hg183188
hg173188
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18900
SamplesNA19221
Known GenesGTF2I
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)nsv8141
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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