A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038799



Internal ID19128018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31104761..31256945hg38UCSC Ensembl
Innerchr12:31257695..31409879hg19UCSC Ensembl
Innerchr12:31148962..31301146hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38152185
hg19152185
hg18152185
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1417n100
Supporting Variantsnssv3710353, nssv3710352, nssv3505692, nssv3511913, nssv3521653
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)nsv1038799
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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