A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527728



Internal ID15455021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47560814..47650723hg38UCSC Ensembl
Innerchr12:47954597..48044506hg19UCSC Ensembl
Innerchr12:46240864..46330773hg18UCSC Ensembl
Innerchr12:46240864..46330773hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3889910
hg1989910
hg1889910
hg1789910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704210
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527728
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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