A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044047



Internal ID19133266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31104761..31254177hg38UCSC Ensembl
Innerchr12:31257695..31407111hg19UCSC Ensembl
Innerchr12:31148962..31298378hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38149417
hg19149417
hg18149417
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1417n100
Supporting Variantsnssv3513157, nssv3517875, nssv3710351, nssv3517663, nssv3710350, nssv3515768, nssv3508830, nssv3504190, nssv3517381, nssv3503698, nssv3519015, nssv3519281, nssv3522175, nssv3520068, nssv3508616, nssv3514684, nssv3506951, nssv3710347, nssv3517206, nssv3710349, nssv3710348, nssv3518554, nssv3510624, nssv3521414
Samples
Known GenesDDX11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044047
Frequency
Sample Size11257
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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