A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538012



Internal ID15509987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:132239100..132371967hg38UCSC Ensembl
Innerchr4:133160255..133293122hg19UCSC Ensembl
Innerchr4:133379705..133512572hg18UCSC Ensembl
Innerchr4:133517860..133650727hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38132868
hg19132868
hg18132868
hg17132868
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461645
Supporting Variants
SamplesHGDP01167
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)nssv538012
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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