A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17953



Internal ID15833202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75236774..75237331hg38UCSC Ensembl
Outerchr7:75236273..75237382hg38UCSC Ensembl
Innerchr7:74652522..74653078hg19UCSC Ensembl
Outerchr7:74651979..74653129hg19UCSC Ensembl
Innerchr7:74290458..74291014hg18UCSC Ensembl
Outerchr7:74289915..74291065hg18UCSC Ensembl
Innerchr7:74097173..74097729hg17UCSC Ensembl
Outerchr7:74096630..74097780hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381110
hg191151
hg181151
hg171151
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8151
Supporting Variants
SamplesNA18504
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)nssv17953
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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