A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460808



Internal ID15520873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:104936738..104996194hg38UCSC Ensembl
Innerchr3:104655582..104715038hg19UCSC Ensembl
Innerchr3:106138272..106197728hg18UCSC Ensembl
Innerchr3:106138272..106197728hg17UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3859457
hg1959457
hg1859457
hg1759457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537312
SamplesNINDS_172
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)nsv460808
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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