A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516655



Internal ID15443948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57369737..57417631hg38UCSC Ensembl
Innerchr12:57763520..57811414hg19UCSC Ensembl
Innerchr12:56049787..56097681hg18UCSC Ensembl
Innerchr12:56049787..56097681hg17UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3847895
hg1947895
hg1847895
hg1747895
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv684822, nssv675598, nssv669923, nssv695292
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516655
Frequency
Sample Size2026
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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