A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041252



Internal ID18783783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31104761..31239565hg38UCSC Ensembl
Innerchr12:31257695..31392499hg19UCSC Ensembl
Innerchr12:31148962..31283766hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38134805
hg19134805
hg18134805
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1417n100
Supporting Variantsnssv3511537, nssv3503562
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)nsv1041252
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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