A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576427



Internal ID16363836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:8161472..8183262hg38UCSC Ensembl
Innerchr18:8161470..8183260hg19UCSC Ensembl
Innerchr18:8151470..8173260hg18UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg3821791
hg1921791
hg1821791
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150586
Samples1780854123_A
Known GenesPTPRM
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576427
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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