A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537020



Internal ID15166217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:14868122..14906032hg38UCSC Ensembl
Innerchr3:14909629..14947539hg19UCSC Ensembl
Innerchr3:14884633..14922543hg18UCSC Ensembl
Innerchr3:14884633..14922543hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3837911
hg1937911
hg1837911
hg1737911
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460452
Supporting Variants
SamplesNINDS_78
Known GenesFGD5
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)nssv537020
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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