A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19904



Internal ID15487228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7325013..7325856hg38UCSC Ensembl
Outerchr8:7324647..7328370hg38UCSC Ensembl
Innerchr8:7182535..7183378hg19UCSC Ensembl
Outerchr8:7182169..7185892hg19UCSC Ensembl
Innerchr8:7169945..7170788hg18UCSC Ensembl
Outerchr8:7169579..7173302hg18UCSC Ensembl
Innerchr8:7169945..7170788hg17UCSC Ensembl
Outerchr8:7169579..7173302hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383724
hg193724
hg183724
hg173724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18517
Known GenesFAM66B
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)nssv19904
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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