A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1937366



Internal ID17877102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66275788..66278952hg38UCSC Ensembl
Innerchr12:66669568..66672732hg19UCSC Ensembl
Innerchr12:64955835..64958999hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg383165
hg193165
hg183165
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976638
Supporting Variants
SamplesHGDP01307
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)nssv1937366
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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