A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21091



Internal ID15844731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161450241..161454762hg38UCSC Ensembl
Outerchr1:161449831..161457212hg38UCSC Ensembl
Innerchr1:161420031..161424552hg19UCSC Ensembl
Outerchr1:161419621..161427002hg19UCSC Ensembl
Innerchr1:159686655..159691176hg18UCSC Ensembl
Outerchr1:159686245..159693626hg18UCSC Ensembl
Innerchr1:158233086..158237607hg17UCSC Ensembl
Outerchr1:158232676..158240057hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg387382
hg197382
hg187382
hg177382
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8491
Supporting Variants
SamplesNA19240
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)nssv21091
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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