A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053659



Internal ID19142878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130590621..130688833hg38UCSC Ensembl
Innerchr12:131075166..131173378hg19UCSC Ensembl
Innerchr12:129641119..129739331hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3898213
hg1998213
hg1898213
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1578n100
Supporting Variantsnssv3526201
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)nsv1053659
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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