A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043906



Internal ID19133125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:118554079..118649341hg38UCSC Ensembl
Innerchr12:118991884..119087146hg19UCSC Ensembl
Innerchr12:117476267..117571529hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3895263
hg1995263
hg1895263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712607
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)nsv1043906
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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