A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461624



Internal ID15521689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:115132078..115408584hg38UCSC Ensembl
Innerchr4:116053234..116329740hg19UCSC Ensembl
Innerchr4:116272683..116549189hg18UCSC Ensembl
Innerchr4:116410838..116687344hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38276507
hg19276507
hg18276507
hg17276507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537998
SamplesHGDP00815
Known Genes
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)nsv461624
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