A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458326



Internal ID15518391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2573997..2619145hg38UCSC Ensembl
Innerchr19:2573995..2619143hg19UCSC Ensembl
Innerchr19:2524995..2570143hg18UCSC Ensembl
Innerchr19:2524995..2570143hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3845149
hg1945149
hg1845149
hg1745149
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535277
SamplesHGDP00910
Known GenesGNG7
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)nsv458326
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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