A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535084



Internal ID15159638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:4330954..4335455hg38UCSC Ensembl
Innerchr18:4330954..4335455hg19UCSC Ensembl
Innerchr18:4320954..4325455hg18UCSC Ensembl
Innerchr18:4320954..4325455hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg384502
hg194502
hg184502
hg174502
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458015
Supporting Variants
SamplesHGDP00462
Known GenesDLGAP1
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)nssv535084
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