A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041491



Internal ID18784022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31108764..31256945hg38UCSC Ensembl
Innerchr12:31261698..31409879hg19UCSC Ensembl
Innerchr12:31152965..31301146hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38148182
hg19148182
hg18148182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1417n100
Supporting Variantsnssv3513093
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041491
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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