A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536945



Internal ID15157871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4120923..4242079hg38UCSC Ensembl
Innerchr3:4162607..4283763hg19UCSC Ensembl
Innerchr3:4137607..4258763hg18UCSC Ensembl
Innerchr3:4137607..4258763hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38121157
hg19121157
hg18121157
hg17121157
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460353
Supporting Variants
Samples1782681313_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)nssv536945
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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