A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542222



Internal ID15159494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:15334858..15477923hg38UCSC Ensembl
Innerchr10:15376857..15519922hg19UCSC Ensembl
Innerchr10:15416863..15559928hg18UCSC Ensembl
Innerchr10:15416863..15559928hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38143066
hg19143066
hg18143066
hg17143066
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466755
Supporting Variants
SamplesHGDP00423
Known GenesFAM171A1
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)nssv542222
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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