A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542694



Internal ID15157212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:78349364..79336832hg38UCSC Ensembl
Innerchr10:80109121..81096589hg19UCSC Ensembl
Innerchr10:79779127..80766595hg18UCSC Ensembl
Innerchr10:79779127..80766595hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38987469
hg19987469
hg18987469
hg17987469
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467384
Supporting Variants
Samples1780862456_A
Known GenesZMIZ1, ZMIZ1-AS1
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)nssv542694
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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