A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458344



Internal ID15518409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6921857..7000390hg38UCSC Ensembl
Innerchr19:6921868..7000401hg19UCSC Ensembl
Innerchr19:6872868..6951401hg18UCSC Ensembl
Innerchr19:6872868..6951401hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3878534
hg1978534
hg1878534
hg1778534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv392n27
Supporting Variantsnssv535287
Samples1782681287_A
Known GenesEMR1, EMR4P
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)nsv458344
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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