A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18554



Internal ID15487710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74965053..74965615hg38UCSC Ensembl
Outerchr7:74965007..74965715hg38UCSC Ensembl
Innerchr7:74379150..74379712hg19UCSC Ensembl
Outerchr7:74379104..74379812hg19UCSC Ensembl
Innerchr7:74017086..74017648hg18UCSC Ensembl
Outerchr7:74017040..74017748hg18UCSC Ensembl
Innerchr7:73823801..73824363hg17UCSC Ensembl
Outerchr7:73823755..73824463hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38709
hg19709
hg18709
hg17709
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8145
Supporting Variants
SamplesNA18517
Known Genes
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)nssv18554
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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