A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064849



Internal ID18807380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:6936252..8070494hg38UCSC Ensembl
Innerchr18:6936251..8070492hg19UCSC Ensembl
Innerchr18:6926251..8060492hg18UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg381134243
hg191134242
hg181134242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564089
Samples
Known GenesLAMA1, LRRC30, PTPRM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064849
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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