A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1932067



Internal ID17497642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54280990..54285461hg38UCSC Ensembl
Innerchr12:54674774..54679245hg19UCSC Ensembl
Innerchr12:52961041..52965512hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384472
hg194472
hg184472
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976627
Supporting Variants
SamplesHGDP01029
Known GenesHNRNPA1, HNRNPA1P10
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)nssv1932067
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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