A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18524



Internal ID15487703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:73155303..73155859hg38UCSC Ensembl
Outerchr7:73155252..73156407hg38UCSC Ensembl
Innerchr7:72569391..72569947hg19UCSC Ensembl
Outerchr7:72569340..72570493hg19UCSC Ensembl
Innerchr7:72207327..72207883hg18UCSC Ensembl
Outerchr7:72207276..72208429hg18UCSC Ensembl
Innerchr7:72014042..72014598hg17UCSC Ensembl
Outerchr7:72013991..72015144hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381156
hg191154
hg181154
hg171154
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8137
Supporting Variants
SamplesNA18517
Known GenesGTF2IP1, LOC100093631
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)nssv18524
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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