A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974815



Internal ID18610024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:51645668..51647349hg38UCSC Ensembl
Innerchr16:51679579..51681260hg19UCSC Ensembl
Innerchr16:50237080..50238761hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381682
hg191682
hg181682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2062341, nssv2062340, nssv2062337, nssv2062335, nssv2062343, nssv2062339, nssv2062338, nssv2062336, nssv2062342, nssv2062334
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)nsv974815
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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