A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062454



Internal ID19151673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:7784434..7838017hg38UCSC Ensembl
Innerchr18:7784432..7838015hg19UCSC Ensembl
Innerchr18:7774432..7828015hg18UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg3853584
hg1953584
hg1853584
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3725288
Samples
Known GenesPTPRM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062454
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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