A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17745



Internal ID15488085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109700002..109701045hg38UCSC Ensembl
Outerchr1:109699584..109701497hg38UCSC Ensembl
Innerchr1:110242624..110243667hg19UCSC Ensembl
Outerchr1:110242206..110244119hg19UCSC Ensembl
Innerchr1:110044147..110045190hg18UCSC Ensembl
Outerchr1:110043729..110045642hg18UCSC Ensembl
Innerchr1:109954666..109955709hg17UCSC Ensembl
Outerchr1:109954248..109956161hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381914
hg191914
hg181914
hg171914
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10617
Supporting Variants
SamplesNA18537
Known Genes
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)nssv17745
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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