A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541487



Internal ID15501939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:93130978..93155425hg38UCSC Ensembl
Innerchr8:94143207..94167654hg19UCSC Ensembl
Innerchr8:94212383..94236830hg18UCSC Ensembl
Innerchr8:94212383..94236830hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3824448
hg1924448
hg1824448
hg1724448
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465738
Supporting Variants
Samples1780854017_A
Known GenesC8orf87
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)nssv541487
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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