A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542347



Internal ID15164414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44912563..44951343hg38UCSC Ensembl
Innerchr10:45408011..45446791hg19UCSC Ensembl
Innerchr10:44728017..44766797hg18UCSC Ensembl
Innerchr10:44728017..44766797hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3838781
hg1938781
hg1838781
hg1738781
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466909
Supporting Variants
SamplesHGDP01353
Known GenesTMEM72, TMEM72-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)nssv542347
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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