A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541320



Internal ID15509888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:14281798..14300104hg38UCSC Ensembl
Innerchr8:14139307..14157613hg19UCSC Ensembl
Innerchr8:14183678..14201984hg18UCSC Ensembl
Innerchr8:14183678..14201984hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3818307
hg1918307
hg1818307
hg1718307
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465529
Supporting Variants
SamplesHGDP01102
Known GenesSGCZ
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)nssv541320
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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