A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541604



Internal ID15502840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675987..136866822hg38UCSC Ensembl
Innerchr8:137688230..137879065hg19UCSC Ensembl
Innerchr8:137757412..137948247hg18UCSC Ensembl
Innerchr8:137757412..137948247hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38190836
hg19190836
hg18190836
hg17190836
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465924
Supporting Variants
Samples1780854566_A
Known Genes
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)nssv541604
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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