A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16128



Internal ID15836464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75236774..75237382hg38UCSC Ensembl
Outerchr7:75236273..75237706hg38UCSC Ensembl
Innerchr7:74652522..74653129hg19UCSC Ensembl
Outerchr7:74651979..74653455hg19UCSC Ensembl
Innerchr7:74290458..74291065hg18UCSC Ensembl
Outerchr7:74289915..74291391hg18UCSC Ensembl
Innerchr7:74097173..74097780hg17UCSC Ensembl
Outerchr7:74096630..74098106hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381434
hg191477
hg181477
hg171477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8151
Supporting Variants
SamplesNA18564
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)nssv16128
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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