A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521059



Internal ID15448352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:7962219..7981020hg38UCSC Ensembl
Innerchr18:7962217..7981018hg19UCSC Ensembl
Innerchr18:7952217..7971018hg18UCSC Ensembl
Innerchr18:7952217..7971018hg17UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg3818802
hg1918802
hg1818802
hg1718802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv683591, nssv680934, nssv692542
Samples
Known GenesPTPRM
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521059
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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