A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541960



Internal ID15156886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69485135..69504046hg38UCSC Ensembl
Innerchr9:72100051..72118962hg19UCSC Ensembl
Innerchr9:71289871..71308782hg18UCSC Ensembl
Innerchr9:69329605..69348516hg17UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3818912
hg1918912
hg1818912
hg1718912
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466412
Supporting Variants
Samples1780862345_A
Known GenesAPBA1
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)nssv541960
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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