A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26872



Internal ID15843035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196753891..196842484hg38UCSC Ensembl
Outerchr1:196748689..196851194hg38UCSC Ensembl
Innerchr1:196723021..196811614hg19UCSC Ensembl
Outerchr1:196717819..196820324hg19UCSC Ensembl
Innerchr1:194989644..195078237hg18UCSC Ensembl
Outerchr1:194984442..195086947hg18UCSC Ensembl
Innerchr1:193454678..193543271hg17UCSC Ensembl
Outerchr1:193449476..193551981hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38102506
hg19102506
hg18102506
hg17102506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA19173
Known GenesCFHR1, CFHR3
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)nssv26872
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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