A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2134576



Internal ID17729108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14280561..14302972hg38UCSC Ensembl
Innerchr19:14391373..14413784hg19UCSC Ensembl
Innerchr19:14252373..14274784hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3822412
hg1922412
hg1822412
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv963010
Supporting Variants
SamplesHGDP00456
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2134576
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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