A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461646



Internal ID15521711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:132700517..132782113hg38UCSC Ensembl
Innerchr4:133621672..133703268hg19UCSC Ensembl
Innerchr4:133841122..133922718hg18UCSC Ensembl
Innerchr4:133979277..134060873hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3881597
hg1981597
hg1881597
hg1781597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538013
Samples1798860567_A
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)nsv461646
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer