A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057995



Internal ID18800526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:10626172..11923368hg38UCSC Ensembl
Innerchr18:10626169..11923367hg19UCSC Ensembl
Innerchr18:10616169..11913367hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381297197
hg191297199
hg181297199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3725291
Samples
Known GenesCHMP1B, GNAL, MIR7153, MPPE1, PIEZO2, SLC35G4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057995
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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