A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1947864



Internal ID17760453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123548333..123550737hg38UCSC Ensembl
Innerchr12:124032880..124035284hg19UCSC Ensembl
Innerchr12:122598833..122601237hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382405
hg192405
hg182405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976655
Supporting Variants
SamplesHGDP00542
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)nssv1947864
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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