A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8137



Internal ID15499363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:73154167..73156407hg38UCSC Ensembl
Outerchr7:72568255..72570493hg19UCSC Ensembl
Outerchr7:72206191..72208429hg18UCSC Ensembl
Outerchr7:72012906..72015144hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382241
hg192239
hg182239
hg172239
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18840, nssv15525, nssv17847, nssv15024, nssv15152, nssv18524, nssv15386, nssv16449, nssv17833, nssv14590, nssv15693, nssv15978
SamplesNA12802, NA18975, NA18517, NA07029, NA12740, NA07048, NA18537, NA18504, NA18564, NA19221, NA19132, NA19007
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)nsv8137
Frequency
Sample Size31
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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