A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461548



Internal ID15521613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69396028..69518273hg38UCSC Ensembl
Innerchr4:70261746..70383991hg19UCSC Ensembl
Innerchr4:70296335..70418580hg18UCSC Ensembl
Innerchr4:70442506..70564751hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38122246
hg19122246
hg18122246
hg17122246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537927
SamplesHGDP00058
Known GenesUGT2B4
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)nsv461548
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