A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2197612



Internal ID17800501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110624264..110634733hg38UCSC Ensembl
Innerchr2:111381841..111392310hg19UCSC Ensembl
Innerchr2:111098310..111108779hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3810470
hg1910470
hg1810470
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979095
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)nssv2197612
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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