A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542329



Internal ID15161383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:42298677..42570966hg38UCSC Ensembl
Innerchr10:42794125..43066414hg19UCSC Ensembl
Innerchr10:42114131..42386420hg18UCSC Ensembl
Innerchr10:42114131..42386420hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38272290
hg19272290
hg18272290
hg17272290
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466877
Supporting Variants
SamplesHGDP00764
Known GenesCCNYL2, LINC00839, LOC441666, ZNF37BP
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)nssv542329
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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