A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459027



Internal ID15172406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57298468..57365865hg38UCSC Ensembl
Innerchr20:55873524..55940921hg19UCSC Ensembl
Innerchr20:55306931..55374328hg18UCSC Ensembl
Innerchr20:55306931..55374328hg17UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3867398
hg1967398
hg1867398
hg1767398
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535869
Samples1780862408_A
Known GenesMIR4325, MIR5095, MTRNR2L3, RAE1, SPO11
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)nsv459027
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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