A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542744



Internal ID15163705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:110819541..110852713hg38UCSC Ensembl
Innerchr10:112579299..112612471hg19UCSC Ensembl
Innerchr10:112569289..112602461hg18UCSC Ensembl
Innerchr10:112569289..112602461hg17UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg3833173
hg1933173
hg1833173
hg1733173
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467455
Supporting Variants
SamplesHGDP01238
Known GenesRBM20
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)nssv542744
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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