A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458029



Internal ID15171408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:10814336..11662152hg38UCSC Ensembl
Innerchr18:10814334..11662151hg19UCSC Ensembl
Innerchr18:10804334..11652151hg18UCSC Ensembl
Innerchr18:10804334..11652151hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38847817
hg19847818
hg18847818
hg17847818
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535092
Samples1782681555_A
Known GenesMIR7153, PIEZO2, SLC35G4
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)nsv458029
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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