A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461389



Internal ID15174768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:63409748..64304697hg38UCSC Ensembl
Innerchr4:64275466..65170415hg19UCSC Ensembl
Innerchr4:63958061..64853010hg18UCSC Ensembl
Innerchr4:64104232..64999181hg17UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38894950
hg19894950
hg18894950
hg17894950
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537777
SamplesHGDP00148
Known GenesTECRL
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)nsv461389
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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