A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978123



Internal ID18613328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29035478..29036116hg38UCSC Ensembl
Innerchr16:29046799..29047437hg19UCSC Ensembl
Innerchr16:28954300..28954938hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38639
hg19639
hg18639
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2636286, nssv2636289, nssv2636283, nssv2636282, nssv2636285, nssv2636287, nssv2636280, nssv2636281, nssv2636284, nssv2636288
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)nsv978123
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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