A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542174



Internal ID15508374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:209282..520255hg38UCSC Ensembl
Innerchr10:255222..566195hg19UCSC Ensembl
Innerchr10:245222..556195hg18UCSC Ensembl
Innerchr10:245222..556195hg17UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38310974
hg19310974
hg18310974
hg17310974
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466693
Supporting Variants
SamplesHGDP00811
Known GenesDIP2C, ZMYND11
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)nssv542174
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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