A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23080



Internal ID15493341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:162383155..162383886hg38UCSC Ensembl
Outerchr1:162381656..162384422hg38UCSC Ensembl
Innerchr1:162352945..162353676hg19UCSC Ensembl
Outerchr1:162351446..162354212hg19UCSC Ensembl
Innerchr1:160619569..160620300hg18UCSC Ensembl
Outerchr1:160618070..160620836hg18UCSC Ensembl
Innerchr1:159084603..159085334hg17UCSC Ensembl
Outerchr1:159083104..159085870hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382767
hg192767
hg182767
hg172767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8513
Supporting Variants
SamplesNA18975
Known GenesC1orf226
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)nssv23080
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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