A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1988024



Internal ID17820180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:56683454..56686355hg38UCSC Ensembl
Innerchr14:57150172..57153073hg19UCSC Ensembl
Innerchr14:56219925..56222826hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg382902
hg192902
hg182902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983829
Supporting Variants
SamplesHGDP00927
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)nssv1988024
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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