A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459243



Internal ID15172622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34751388..34785401hg38UCSC Ensembl
Innerchr21:36123685..36157698hg19UCSC Ensembl
Innerchr21:35045555..35079568hg18UCSC Ensembl
Innerchr21:35045555..35079568hg17UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg3834014
hg1934014
hg1834014
hg1734014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536044
SamplesHGDP00773
Known GenesLOC100506385
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)nsv459243
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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