A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458372



Internal ID15518437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:16033776..16061929hg38UCSC Ensembl
Innerchr19:16144586..16172739hg19UCSC Ensembl
Innerchr19:16005586..16033739hg18UCSC Ensembl
Innerchr19:16005586..16033739hg17UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3828154
hg1928154
hg1828154
hg1728154
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535315
SamplesHGDP01169
Known GenesLINC00905
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)nsv458372
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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