A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1998071



Internal ID17865008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100481053..100482999hg38UCSC Ensembl
Innerchr14:100947390..100949336hg19UCSC Ensembl
Innerchr14:100017143..100019089hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381947
hg191947
hg181947
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974371
Supporting Variants
SamplesHGDP01284
Known GenesWDR25
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)nssv1998071
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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