A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541459



Internal ID15509176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:69519100..69551393hg38UCSC Ensembl
Innerchr8:70431335..70463628hg19UCSC Ensembl
Innerchr8:70593889..70626182hg18UCSC Ensembl
Innerchr8:70593889..70626182hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3832294
hg1932294
hg1832294
hg1732294
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465707
Supporting Variants
SamplesHGDP00952
Known GenesSULF1
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)nssv541459
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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