A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1918372



Internal ID17793445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12845402..12856141hg38UCSC Ensembl
Innerchr12:12998336..13009075hg19UCSC Ensembl
Innerchr12:12889603..12900342hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3810740
hg1910740
hg1810740
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973029
Supporting Variants
SamplesHGDP00778
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)nssv1918372
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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