A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26548



Internal ID15828567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:173895808..173896905hg38UCSC Ensembl
Outerchr1:173894848..173897662hg38UCSC Ensembl
Innerchr1:173864946..173866043hg19UCSC Ensembl
Outerchr1:173863986..173866800hg19UCSC Ensembl
Innerchr1:172131569..172132666hg18UCSC Ensembl
Outerchr1:172130609..172133423hg18UCSC Ensembl
Innerchr1:170596603..170597700hg17UCSC Ensembl
Outerchr1:170595643..170598457hg17UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg382815
hg192815
hg182815
hg172815
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8535
Supporting Variants
SamplesNA10839
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)nssv26548
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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