A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14092



Internal ID15492432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103596922..103610702hg38UCSC Ensembl
Outerchr1:103587923..103612647hg38UCSC Ensembl
Innerchr1:104139544..104153324hg19UCSC Ensembl
Outerchr1:104130545..104155269hg19UCSC Ensembl
Innerchr1:103941067..103954847hg18UCSC Ensembl
Outerchr1:103932068..103956792hg18UCSC Ensembl
Innerchr1:103851565..103865345hg17UCSC Ensembl
Outerchr1:103842566..103867290hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3824725
hg1924725
hg1824725
hg1724725
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA18942
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)nssv14092
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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