A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9103



Internal ID15847015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248156101..248328200hg38UCSC Ensembl
Outerchr1:248319403..248491502hg19UCSC Ensembl
Outerchr1:246386026..246558125hg18UCSC Ensembl
Outerchr1:244645444..244817543hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38172100
hg19172100
hg18172100
hg17172100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26192
SamplesNA19132
Known GenesOR2M2, OR2M3, OR2M4, OR2M7, OR2T12, OR2T33
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)nsv9103
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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