A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042348



Internal ID19131567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3560873..3600743hg38UCSC Ensembl
Innerchr12:3670039..3709909hg19UCSC Ensembl
Innerchr12:3540300..3580170hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3839871
hg1939871
hg1839871
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3506618
Samples
Known GenesPRMT8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042348
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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