A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542079



Internal ID15155835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:125641230..125704242hg38UCSC Ensembl
Innerchr9:128403509..128466521hg19UCSC Ensembl
Innerchr9:127443330..127506342hg18UCSC Ensembl
Innerchr9:125483063..125546075hg17UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3863013
hg1963013
hg1863013
hg1763013
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466560
Supporting Variants
Samples1780854441_A
Known GenesMAPKAP1
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)nssv542079
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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