A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15450



Internal ID15497535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25300073..25318966hg38UCSC Ensembl
Outerchr1:25298591..25319716hg38UCSC Ensembl
Innerchr1:25626564..25645457hg19UCSC Ensembl
Outerchr1:25625082..25646207hg19UCSC Ensembl
Innerchr1:25499151..25518044hg18UCSC Ensembl
Outerchr1:25497669..25518794hg18UCSC Ensembl
Innerchr1:25371880..25390773hg17UCSC Ensembl
Outerchr1:25370398..25391523hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3821126
hg1921126
hg1821126
hg1721126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9768
Supporting Variants
SamplesNA19221
Known GenesRHD
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)nssv15450
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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