A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459305



Internal ID15519370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45448915..45484919hg38UCSC Ensembl
Innerchr21:46868829..46904833hg19UCSC Ensembl
Innerchr21:45693257..45729261hg18UCSC Ensembl
Innerchr21:45693257..45729261hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3836005
hg1936005
hg1836005
hg1736005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv538n27
Supporting Variantsnssv536081
SamplesHGDP00433
Known GenesCOL18A1, MIR6815
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)nsv459305
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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