A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459229



Internal ID15519294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:27171137..28110169hg38UCSC Ensembl
Innerchr21:28543456..29482488hg19UCSC Ensembl
Innerchr21:27465327..28404359hg18UCSC Ensembl
Innerchr21:27465327..28404359hg17UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38939033
hg19939033
hg18939033
hg17939033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536035
Samples1780862076_A
Known GenesLINC00113, LINC00314, MIR5009
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)nsv459229
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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