A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26851



Internal ID15830699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196826404..196827145hg38UCSC Ensembl
Outerchr1:196826021..196827537hg38UCSC Ensembl
Innerchr1:196795534..196796275hg19UCSC Ensembl
Outerchr1:196795151..196796667hg19UCSC Ensembl
Innerchr1:195062157..195062898hg18UCSC Ensembl
Outerchr1:195061774..195063290hg18UCSC Ensembl
Innerchr1:193527191..193527932hg17UCSC Ensembl
Outerchr1:193526808..193528324hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg381517
hg191517
hg181517
hg171517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA12155
Known GenesCFHR1
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)nssv26851
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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