A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517916



Internal ID15445209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30301912..30332678hg38UCSC Ensembl
Innerchr12:30454845..30485611hg19UCSC Ensembl
Innerchr12:30346112..30376878hg18UCSC Ensembl
Innerchr12:30346112..30376878hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3830767
hg1930767
hg1830767
hg1730767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695328
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517916
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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