A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28920



Internal ID15481481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12849530..12855981hg38UCSC Ensembl
Outerchr1:12848985..12856454hg38UCSC Ensembl
Innerchr1:12909383..12915835hg19UCSC Ensembl
Outerchr1:12908838..12916308hg19UCSC Ensembl
Innerchr1:12831970..12838422hg18UCSC Ensembl
Outerchr1:12831425..12838895hg18UCSC Ensembl
Innerchr1:12843649..12850101hg17UCSC Ensembl
Outerchr1:12843104..12850574hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg387470
hg197471
hg187471
hg177471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA07048
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)nssv28920
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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