A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27417



Internal ID15843611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196742493..196747369hg38UCSC Ensembl
Outerchr1:196742004..196747844hg38UCSC Ensembl
Innerchr1:196711623..196716499hg19UCSC Ensembl
Outerchr1:196711134..196716974hg19UCSC Ensembl
Innerchr1:194978246..194983122hg18UCSC Ensembl
Outerchr1:194977757..194983597hg18UCSC Ensembl
Innerchr1:193443280..193448156hg17UCSC Ensembl
Outerchr1:193442791..193448631hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg385841
hg195841
hg185841
hg175841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA19221
Known GenesCFH
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)nssv27417
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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