A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461334



Internal ID15521399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:37991693..38009944hg38UCSC Ensembl
Innerchr4:37993314..38011565hg19UCSC Ensembl
Innerchr4:37669709..37687960hg18UCSC Ensembl
Innerchr4:37815880..37834131hg17UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3818252
hg1918252
hg1818252
hg1718252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537734
SamplesNINDS_56
Known GenesTBC1D1
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)nsv461334
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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