A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461691



Internal ID15521756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:152967488..152993851hg38UCSC Ensembl
Innerchr4:153888640..153915003hg19UCSC Ensembl
Innerchr4:154108090..154134453hg18UCSC Ensembl
Innerchr4:154246245..154272608hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3826364
hg1926364
hg1826364
hg1726364
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538049
Samples1780854205_A
Known GenesFHDC1
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)nsv461691
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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