A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458948



Internal ID15172327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:23254062..23312212hg38UCSC Ensembl
Innerchr20:23234699..23292849hg19UCSC Ensembl
Innerchr20:23182699..23240849hg18UCSC Ensembl
Innerchr20:23182699..23240849hg17UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3858151
hg1958151
hg1858151
hg1758151
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535801
SamplesHGDP01157
Known Genes
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)nsv458948
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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