A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541538



Internal ID15502175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:128452778..128611821hg38UCSC Ensembl
Innerchr8:129465024..129624067hg19UCSC Ensembl
Innerchr8:129534206..129693249hg18UCSC Ensembl
Innerchr8:129534206..129693249hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38159044
hg19159044
hg18159044
hg17159044
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465806
Supporting Variants
Samples1780854206_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)nssv541538
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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