A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8447



Internal ID15846359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155172153..155184461hg38UCSC Ensembl
Outerchr1:155144629..155156937hg19UCSC Ensembl
Outerchr1:153411253..153423561hg18UCSC Ensembl
Outerchr1:151957702..151970010hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3812309
hg1912309
hg1812309
hg1712309
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26574
SamplesNA19221
Known GenesKRTCAP2, TRIM46
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)nsv8447
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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