A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787



Internal ID15830326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75352939..75357579hg38UCSC Ensembl
Outerchr7:75352937..75358658hg38UCSC Ensembl
Innerchr7:74982186..74986833hg19UCSC Ensembl
Outerchr7:74982184..74987912hg19UCSC Ensembl
Innerchr7:74820122..74824769hg18UCSC Ensembl
Outerchr7:74820120..74825848hg18UCSC Ensembl
Innerchr7:74626837..74631484hg17UCSC Ensembl
Outerchr7:74626835..74632563hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg385722
hg195729
hg185729
hg175729
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8155
Supporting Variants
SamplesNA11830
Known GenesPMS2P5
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)nssv15787
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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