A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462794



Internal ID15522859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102984640..103073451hg38UCSC Ensembl
Innerchr1:103450196..103539007hg19UCSC Ensembl
Innerchr1:103222784..103311595hg18UCSC Ensembl
Innerchr1:103162217..103251028hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3888812
hg1988812
hg1888812
hg1788812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv25n27
Supporting Variantsnssv538882
SamplesHGDP00580
Known GenesCOL11A1
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)nsv462794
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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