A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541972



Internal ID15503331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:78357852..78432975hg38UCSC Ensembl
Innerchr9:80972768..81047891hg19UCSC Ensembl
Innerchr9:80162588..80237711hg18UCSC Ensembl
Innerchr9:78202322..78277445hg17UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg3875124
hg1975124
hg1875124
hg1775124
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466425
Supporting Variants
Samples1780862197_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)nssv541972
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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