A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541469



Internal ID15510711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:75531228..75564634hg38UCSC Ensembl
Innerchr8:76443463..76476869hg19UCSC Ensembl
Innerchr8:76606018..76639424hg18UCSC Ensembl
Innerchr8:76606018..76639424hg17UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3833407
hg1933407
hg1833407
hg1733407
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465718
Supporting Variants
SamplesHGDP01286
Known GenesHNF4G
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)nssv541469
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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