A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978212



Internal ID18613417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29046064..29049558hg38UCSC Ensembl
Innerchr16:29057385..29060879hg19UCSC Ensembl
Innerchr16:28964886..28968380hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383495
hg193495
hg183495
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2636590, nssv2636583, nssv2636587, nssv2636586, nssv2636592, nssv2636589, nssv2636584, nssv2636591, nssv2636588, nssv2636585
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978212
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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