A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460932



Internal ID15520997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:162412903..162520451hg38UCSC Ensembl
Innerchr3:162130691..162238239hg19UCSC Ensembl
Innerchr3:163613385..163720933hg18UCSC Ensembl
Innerchr3:163613393..163720941hg17UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38107549
hg19107549
hg18107549
hg17107549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537408
SamplesNINDS_216
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)nsv460932
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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