A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974790



Internal ID18609999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28236842..28242151hg38UCSC Ensembl
Innerchr16:28248163..28253472hg19UCSC Ensembl
Innerchr16:28155664..28160973hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg385310
hg195310
hg185310
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2053992, nssv2053989, nssv2053990, nssv2053993, nssv2053986, nssv2053991, nssv2053988, nssv2053987, nssv2053985, nssv2053994
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)nsv974790
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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