A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458104



Internal ID15171483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:66174053..66538654hg38UCSC Ensembl
Innerchr18:63841290..64205891hg19UCSC Ensembl
Innerchr18:61992270..62356871hg18UCSC Ensembl
Innerchr18:61992270..62356871hg17UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38364602
hg19364602
hg18364602
hg17364602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535139
Samples1780854103_A
Known GenesCDH19
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)nsv458104
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer