A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458719



Internal ID15172098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48680448..48699602hg38UCSC Ensembl
Innerchr19:49183705..49202859hg19UCSC Ensembl
Innerchr19:53875517..53894671hg18UCSC Ensembl
Innerchr19:53875517..53894671hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3819155
hg1919155
hg1819155
hg1719155
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535630
SamplesHGDP00748
Known GenesFUT2, SEC1P
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)nsv458719
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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