A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15536



Internal ID15841461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75236774..75238298hg38UCSC Ensembl
Outerchr7:75236273..75238459hg38UCSC Ensembl
Innerchr7:74652522..74654053hg19UCSC Ensembl
Outerchr7:74651979..74654214hg19UCSC Ensembl
Innerchr7:74290458..74291989hg18UCSC Ensembl
Outerchr7:74289915..74292150hg18UCSC Ensembl
Innerchr7:74097173..74098704hg17UCSC Ensembl
Outerchr7:74096630..74098865hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382187
hg192236
hg182236
hg172236
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8151
Supporting Variants
SamplesNA19007
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)nssv15536
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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