A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460697



Internal ID15174076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:65861250..65938065hg38UCSC Ensembl
Innerchr3:65846925..65923740hg19UCSC Ensembl
Innerchr3:65821965..65898780hg18UCSC Ensembl
Innerchr3:65821965..65898780hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3876816
hg1976816
hg1876816
hg1776816
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537234
Samples1780862161_A
Known GenesMAGI1, MAGI1-AS1
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)nsv460697
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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