A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460830



Internal ID15520895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:119010267..119083007hg38UCSC Ensembl
Innerchr3:118729114..118801854hg19UCSC Ensembl
Innerchr3:120211804..120284544hg18UCSC Ensembl
Innerchr3:120211804..120284544hg17UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg3872741
hg1972741
hg1872741
hg1772741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv618n27
Supporting Variantsnssv537330
SamplesNINDS_99
Known GenesIGSF11
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)nsv460830
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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