A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533784



Internal ID15163206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105671130..106649040hg38UCSC Ensembl
Innerchr14:106137467..107105043hg19UCSC Ensembl
Innerchr14:105208512..106176088hg18UCSC Ensembl
Innerchr14:105208512..106176088hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38977911
hg19967577
hg18967577
hg17967577
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456477
Supporting Variants
SamplesHGDP01103
Known GenesADAM6, ELK2AP, KIAA0125, LINC00221, LINC00226
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)nssv533784
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