A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461975



Internal ID15175354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:10236924..10262046hg38UCSC Ensembl
Innerchr5:10237036..10262158hg19UCSC Ensembl
Innerchr5:10290036..10315158hg18UCSC Ensembl
Innerchr5:10290036..10315158hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3825123
hg1925123
hg1825123
hg1725123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538280
SamplesHGDP01383
Known GenesCCT5, FAM173B
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)nsv461975
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