A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542243



Internal ID15510096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:20548066..20573498hg38UCSC Ensembl
Innerchr10:20836995..20862427hg19UCSC Ensembl
Innerchr10:20877001..20902433hg18UCSC Ensembl
Innerchr10:20877001..20902433hg17UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3825433
hg1925433
hg1825433
hg1725433
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466777
Supporting Variants
SamplesHGDP01187
Known GenesMIR4675
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)nssv542243
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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