A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040741



Internal ID19129960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128730087..128780293hg38UCSC Ensembl
Innerchr12:129214632..129264838hg19UCSC Ensembl
Innerchr12:127780585..127830791hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3850207
hg1950207
hg1850207
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526167
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)nsv1040741
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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