A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456194



Internal ID15516259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:29149561..29196263hg38UCSC Ensembl
Innerchr14:29618767..29665469hg19UCSC Ensembl
Innerchr14:28688518..28735220hg18UCSC Ensembl
Innerchr14:28688518..28735220hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3846703
hg1946703
hg1846703
hg1746703
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533564
SamplesHGDP01238
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)nsv456194
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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