A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460968



Internal ID15521033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:164662241..164697421hg38UCSC Ensembl
Innerchr3:164380029..164415209hg19UCSC Ensembl
Innerchr3:165862723..165897903hg18UCSC Ensembl
Innerchr3:165862731..165897911hg17UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg3835181
hg1935181
hg1835181
hg1735181
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537437
Samples1782681091_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)nsv460968
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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