A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1997040



Internal ID17862928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:96565365..96566648hg38UCSC Ensembl
Innerchr14:97031702..97032985hg19UCSC Ensembl
Innerchr14:96101455..96102738hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381284
hg191284
hg181284
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977501
Supporting Variants
SamplesHGDP01284
Known GenesPAPOLA
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)nssv1997040
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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