A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041354



Internal ID19130573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31128312..31254177hg38UCSC Ensembl
Innerchr12:31281246..31407111hg19UCSC Ensembl
Innerchr12:31172513..31298378hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38125866
hg19125866
hg18125866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1419n100
Supporting Variantsnssv3711258, nssv3514141, nssv3711259, nssv3514517, nssv3513853, nssv3518991, nssv3711255, nssv3711256, nssv3711257, nssv3520888, nssv3509503, nssv3511433, nssv3506224
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)nsv1041354
Frequency
Sample Size11257
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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