A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10184



Internal ID15845147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:55263082..55619160hg38UCSC Ensembl
Outerchr1:55728755..56084833hg19UCSC Ensembl
Outerchr1:55501343..55857421hg18UCSC Ensembl
Outerchr1:55440776..55796854hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38356079
hg19356079
hg18356079
hg17356079
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16769, nssv14073
SamplesNA07048, NA19173
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)nsv10184
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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