A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461675



Internal ID8488722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:146195712..146847054hg38UCSC Ensembl
Innerchr4:147116864..147768206hg19UCSC Ensembl
Innerchr4:147336314..147987656hg18UCSC Ensembl
Innerchr4:147474469..148125811hg17UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg38651343
hg19651343
hg18651343
hg17651343
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538036
SamplesHGDP01250
Known GenesMIR7849, POU4F2, SLC10A7, TTC29
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)nsv461675
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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