A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19251



Internal ID15491578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7309415..7349324hg38UCSC Ensembl
Outerchr8:7308992..7350182hg38UCSC Ensembl
Innerchr8:7166937..7206846hg19UCSC Ensembl
Outerchr8:7166514..7207704hg19UCSC Ensembl
Innerchr8:7154347..7194256hg18UCSC Ensembl
Outerchr8:7153924..7195114hg18UCSC Ensembl
Innerchr8:7154347..7194256hg17UCSC Ensembl
Outerchr8:7153924..7195114hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3841191
hg1941191
hg1841191
hg1741191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18860
Known GenesDEFB109P1B, FAM66B, USP17L1P, USP17L4
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)nssv19251
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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