A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458345



Internal ID15518410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6958123..7000390hg38UCSC Ensembl
Innerchr19:6958134..7000401hg19UCSC Ensembl
Innerchr19:6909134..6951401hg18UCSC Ensembl
Innerchr19:6909134..6951401hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3842268
hg1942268
hg1842268
hg1742268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv394n27
Supporting Variantsnssv535288
SamplesHGDP01078
Known GenesEMR4P
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)nsv458345
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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