A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533757



Internal ID15503673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104257096..104325917hg38UCSC Ensembl
Innerchr14:104723433..104792254hg19UCSC Ensembl
Innerchr14:103793186..103863299hg18UCSC Ensembl
Innerchr14:103793186..103863299hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3868822
hg1968822
hg1870114
hg1770114
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456438
Supporting Variants
Samples1780862388_A
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)nssv533757
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