A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538416



Internal ID15504638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:80018289..80091130hg38UCSC Ensembl
Innerchr1:80483974..80556815hg19UCSC Ensembl
Innerchr1:80256562..80329403hg18UCSC Ensembl
Innerchr1:80195995..80268836hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3872842
hg1972842
hg1872842
hg1772842
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462195
Supporting Variants
Samples1787431198_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)nssv538416
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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