A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977501



Internal ID18612707
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 StatusM
Merged Variants
Supporting Variantsnssv1997039, nssv1997040, nssv1997043, nssv1997037, nssv1997036, nssv1997044, nssv1997041, nssv1997045, nssv1997042, nssv1997038
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPAPOLA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977501
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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