A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458357



Internal ID15171736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14695350..14735523hg38UCSC Ensembl
Innerchr19:14806162..14846335hg19UCSC Ensembl
Innerchr19:14667162..14707335hg18UCSC Ensembl
Innerchr19:14667162..14707335hg17UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3840174
hg1940174
hg1840174
hg1740174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535300
SamplesHGDP00029
Known GenesEMR2, ZNF333
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)nsv458357
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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