A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456302



Internal ID15516367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47181718..47246418hg38UCSC Ensembl
Innerchr14:47650921..47715621hg19UCSC Ensembl
Innerchr14:46720671..46785371hg18UCSC Ensembl
Innerchr14:46720671..46785371hg17UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3864701
hg1964701
hg1864701
hg1764701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533646
Samples1798860114_A
Known GenesMDGA2
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)nsv456302
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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