A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539136



Internal ID15163950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108813740..108829252hg38UCSC Ensembl
Innerchr1:109356362..109371874hg19UCSC Ensembl
Innerchr1:109157885..109173397hg18UCSC Ensembl
Innerchr1:109068404..109083916hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3815513
hg1915513
hg1815513
hg1715513
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463106
Supporting Variants
SamplesHGDP01275
Known GenesAKNAD1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv539136
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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