A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461575



Internal ID15521640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88555851..88646616hg38UCSC Ensembl
Innerchr4:89477002..89567767hg19UCSC Ensembl
Innerchr4:89696025..89786790hg18UCSC Ensembl
Innerchr4:89834180..89924945hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3890766
hg1990766
hg1890766
hg1790766
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537950
SamplesHGDP00614
Known GenesHERC3
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)nsv461575
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer