A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062247



Internal ID18804778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:2887767..3394669hg38UCSC Ensembl
Innerchr18:2887765..3394667hg19UCSC Ensembl
Innerchr18:2877765..3384667hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38506903
hg19506903
hg18506903
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564067
Samples
Known GenesEMILIN2, LOC727896, LPIN2, MYL12A, MYL12B, MYOM1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062247
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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