A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18900



Internal ID15844122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74738492..74740991hg38UCSC Ensembl
Outerchr7:74738033..74741223hg38UCSC Ensembl
Innerchr7:74152834..74155326hg19UCSC Ensembl
Outerchr7:74152375..74155562hg19UCSC Ensembl
Innerchr7:73790770..73793262hg18UCSC Ensembl
Outerchr7:73790311..73793498hg18UCSC Ensembl
Innerchr7:73597485..73599977hg17UCSC 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 StatusS
Merged Variantsnsv8141
Supporting Variants
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)nssv18900
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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