A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461887



Internal ID15175266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:299506..438449hg38UCSC Ensembl
Innerchr5:299621..438564hg19UCSC Ensembl
Innerchr5:352621..491564hg18UCSC Ensembl
Innerchr5:352621..491564hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38138944
hg19138944
hg18138944
hg17138944
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538214
SamplesHGDP00045
Known GenesAHRR, PDCD6
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)nsv461887
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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