A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461835



Internal ID15521900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:170720900..170767717hg38UCSC Ensembl
Innerchr4:171642051..171688868hg19UCSC Ensembl
Innerchr4:171878626..171925443hg18UCSC Ensembl
Innerchr4:172016781..172063598hg17UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg3846818
hg1946818
hg1846818
hg1746818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538179
SamplesHGDP00746
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)nsv461835
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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