A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542540



Internal ID15164264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:48194041..48368835hg38UCSC Ensembl
Innerchr10:49402084..49576878hg19UCSC Ensembl
Innerchr10:49072090..49246884hg18UCSC Ensembl
Innerchr10:49072090..49246884hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38174795
hg19174795
hg18174795
hg17174795
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467190
Supporting Variants
SamplesHGDP01330
Known GenesFRMPD2, MAPK8
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)nssv542540
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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