A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541470



Internal ID15504277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:75562484..75607599hg38UCSC Ensembl
Innerchr8:76474719..76519834hg19UCSC Ensembl
Innerchr8:76637274..76682389hg18UCSC Ensembl
Innerchr8:76637274..76682389hg17UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3845116
hg1945116
hg1845116
hg1745116
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465719
Supporting Variants
Samples1782681086_A
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)nssv541470
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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