A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1936517



Internal ID17872112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:65644887..65646353hg38UCSC Ensembl
Innerchr12:66038667..66040133hg19UCSC Ensembl
Innerchr12:64324934..64326400hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg381467
hg191467
hg181467
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983341
Supporting Variants
SamplesHGDP01284
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1936517
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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