A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456301



Internal ID15516366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47120191..47181718hg38UCSC Ensembl
Innerchr14:47589394..47650921hg19UCSC Ensembl
Innerchr14:46659144..46720671hg18UCSC Ensembl
Innerchr14:46659144..46720671hg17UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3861528
hg1961528
hg1861528
hg1761528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533645
SamplesNINDS_178
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)nsv456301
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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