A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459010



Internal ID15172389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031284..54036948hg38UCSC Ensembl
Innerchr20:52647823..52653487hg19UCSC Ensembl
Innerchr20:52081230..52086894hg18UCSC Ensembl
Innerchr20:52081230..52086894hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg385665
hg195665
hg185665
hg175665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv513n27
Supporting Variantsnssv535855
SamplesNINDS_118
Known GenesBCAS1
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)nsv459010
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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