A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1923614



Internal ID17760637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30860808..30862916hg38UCSC Ensembl
Innerchr12:31013742..31015850hg19UCSC Ensembl
Innerchr12:30905009..30907117hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382109
hg192109
hg182109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975468
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)nssv1923614
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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