A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537745



Internal ID15507303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:45222483..45281849hg38UCSC Ensembl
Innerchr4:45224500..45283866hg19UCSC Ensembl
Innerchr4:44919257..44978623hg18UCSC Ensembl
Innerchr4:45065428..45124794hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3859367
hg1959367
hg1859367
hg1759367
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461351
Supporting Variants
SamplesHGDP00640
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)nssv537745
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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