A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461931



Internal ID15521996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:8700375..8770073hg38UCSC Ensembl
Innerchr5:8700487..8770185hg19UCSC Ensembl
Innerchr5:8753487..8823185hg18UCSC Ensembl
Innerchr5:8753487..8823185hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3869699
hg1969699
hg1869699
hg1769699
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538241
SamplesHGDP00007
Known Genes
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)nsv461931
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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