A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542293



Internal ID15512944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:20561695..20588852hg38UCSC Ensembl
Innerchr10:20850624..20877781hg19UCSC Ensembl
Innerchr10:20890630..20917787hg18UCSC Ensembl
Innerchr10:20890630..20917787hg17UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3827158
hg1927158
hg1827158
hg1727158
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466831
Supporting Variants
SamplesNINDS_84
Known Genes
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)nssv542293
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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