A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542228



Internal ID15512202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:18643243..18687730hg38UCSC Ensembl
Innerchr10:18932172..18976659hg19UCSC Ensembl
Innerchr10:18972178..19016665hg18UCSC Ensembl
Innerchr10:18972178..19016665hg17UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3844488
hg1944488
hg1844488
hg1744488
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466762
Supporting Variants
SamplesNINDS_214
Known GenesARL5B, NSUN6
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)nssv542228
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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