A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461357



Internal ID15521422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:48246241..48272135hg38UCSC Ensembl
Innerchr4:48248258..48274152hg19UCSC Ensembl
Innerchr4:47943015..47968909hg18UCSC Ensembl
Innerchr4:48089186..48115080hg17UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3825895
hg1925895
hg1825895
hg1725895
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537749
SamplesHGDP01297
Known GenesTEC
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)nsv461357
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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