A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18443



Internal ID15492731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25258134..25370630hg38UCSC Ensembl
Outerchr1:25257564..25375524hg38UCSC Ensembl
Innerchr1:25584625..25697121hg19UCSC Ensembl
Outerchr1:25584055..25702015hg19UCSC Ensembl
Innerchr1:25457212..25569708hg18UCSC Ensembl
Outerchr1:25456642..25574602hg18UCSC Ensembl
Innerchr1:25329943..25442437hg17UCSC Ensembl
Outerchr1:25329374..25447331hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38117961
hg19117961
hg18117961
hg17117958
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9768
Supporting Variants
SamplesNA18972
Known GenesRHCE, RHD, TMEM50A
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)nssv18443
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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