A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542346



Internal ID15156449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44715242..44873696hg38UCSC Ensembl
Innerchr10:45210690..45369144hg19UCSC Ensembl
Innerchr10:44530696..44689150hg18UCSC Ensembl
Innerchr10:44530696..44689150hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38158455
hg19158455
hg18158455
hg17158455
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466898
Supporting Variants
Samples1780862090_A
Known GenesTMEM72-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)nssv542346
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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