A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978126



Internal ID18613331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29380312..29420028hg38UCSC Ensembl
Innerchr16:29391633..29431349hg19UCSC Ensembl
Innerchr16:29299134..29338850hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3839717
hg1939717
hg1839717
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2055237, nssv2055243, nssv2055234, nssv2055242, nssv2055240, nssv2055235, nssv2055236, nssv2055238, nssv2055241, nssv2055239
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978126
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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