A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466361



Internal ID15526426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188413334..188486278hg38UCSC Ensembl
Innerchr1:188382465..188455409hg19UCSC Ensembl
Innerchr1:186649088..186722032hg18UCSC Ensembl
Innerchr1:185114122..185187066hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3872945
hg1972945
hg1872945
hg1772945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541921
Samples1780862574_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)nsv466361
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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