A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1916734



Internal ID17498188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:13013578..13021572hg38UCSC Ensembl
Innerchr12:13166512..13174506hg19UCSC Ensembl
Innerchr12:13057779..13065773hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg387995
hg197995
hg187995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973031
Supporting Variants
SamplesHGDP01029
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)nssv1916734
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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