A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535087



Internal ID15502078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:8161472..8183262hg38UCSC Ensembl
Innerchr18:8161470..8183260hg19UCSC Ensembl
Innerchr18:8151470..8173260hg18UCSC Ensembl
Innerchr18:8151470..8173260hg17UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg3821791
hg1921791
hg1821791
hg1721791
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458020
Supporting Variants
Samples1780854123_A
Known GenesPTPRM
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)nssv535087
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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