A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462984



Internal ID15523049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105483286..105629866hg38UCSC Ensembl
Innerchr1:106025908..106172488hg19UCSC Ensembl
Innerchr1:105827431..105974011hg18UCSC Ensembl
Innerchr1:105737929..105884509hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38146581
hg19146581
hg18146581
hg17146581
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539024
Samples1780862202_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)nsv462984
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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