A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1937910



Internal ID17878276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71018212..71020439hg38UCSC Ensembl
Innerchr12:71411992..71414219hg19UCSC Ensembl
Innerchr12:69698259..69700486hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg382228
hg192228
hg182228
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975512
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)nssv1937910
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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