A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461812



Internal ID15521877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:161629719..161691413hg38UCSC Ensembl
Innerchr4:162550871..162612565hg19UCSC Ensembl
Innerchr4:162770321..162832015hg18UCSC Ensembl
Innerchr4:162908476..162970170hg17UCSC Ensembl
Cytoband4q32.2
Allele length
AssemblyAllele length
hg3861695
hg1961695
hg1861695
hg1761695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538162
SamplesHGDP01279
Known GenesFSTL5
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)nsv461812
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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