A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519756



Internal ID15447049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:118654552..118789437hg38UCSC Ensembl
Innerchr12:119092357..119227242hg19UCSC Ensembl
Innerchr12:117576740..117711625hg18UCSC Ensembl
Innerchr12:117555077..117689962hg17UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38134886
hg19134886
hg18134886
hg17134886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694345
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519756
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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