A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520713



Internal ID15448006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10209625..10211763hg38UCSC Ensembl
Innerchr12:10362224..10364362hg19UCSC Ensembl
Innerchr12:10253491..10255629hg18UCSC Ensembl
Innerchr12:10253491..10255629hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg382139
hg192139
hg182139
hg172139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697570
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520713
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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