A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542004



Internal ID15156655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:104849546..104914659hg38UCSC Ensembl
Innerchr9:107611827..107676940hg19UCSC Ensembl
Innerchr9:106651648..106716761hg18UCSC Ensembl
Innerchr9:104691382..104756495hg17UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3865114
hg1965114
hg1865114
hg1765114
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466471
Supporting Variants
Samples1780862197_A
Known GenesABCA1
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)nssv542004
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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