A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541521



Internal ID15503629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:117889689..117958061hg38UCSC Ensembl
Innerchr8:118901928..118970300hg19UCSC Ensembl
Innerchr8:118971109..119039481hg18UCSC Ensembl
Innerchr8:118971109..119039481hg17UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3868373
hg1968373
hg1868373
hg1768373
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465785
Supporting Variants
Samples1780862373_A
Known GenesEXT1
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)nssv541521
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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