A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1933739



Internal ID17500676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56711412..56713749hg38UCSC Ensembl
Innerchr12:57105196..57107533hg19UCSC Ensembl
Innerchr12:55391463..55393800hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg382338
hg192338
hg182338
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976629
Supporting Variants
SamplesHGDP01029
Known GenesNACA
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)nssv1933739
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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