A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459265



Internal ID15172644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41732924..41760723hg38UCSC Ensembl
Innerchr21:43153084..43180883hg19UCSC Ensembl
Innerchr21:42026153..42053952hg18UCSC Ensembl
Innerchr21:42026153..42053952hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3827800
hg1927800
hg1827800
hg1727800
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536057
Samples1780862565_A
Known GenesMIR6814, RIPK4
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)nsv459265
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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