A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463062



Internal ID15523127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:106700640..106770988hg38UCSC Ensembl
Innerchr1:107243262..107313610hg19UCSC Ensembl
Innerchr1:107044785..107115133hg18UCSC Ensembl
Innerchr1:106955304..107025652hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3870349
hg1970349
hg1870349
hg1770349
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539093
Samples1782681096_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)nsv463062
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