A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978120



Internal ID18613325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:26031622..26032913hg38UCSC Ensembl
Innerchr16:26042943..26044234hg19UCSC Ensembl
Innerchr16:25950444..25951735hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381292
hg191292
hg181292
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2053201, nssv2053205, nssv2053199, nssv2053206, nssv2053202, nssv2053208, nssv2053200, nssv2053204, nssv2053207, nssv2053203
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHS3ST4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978120
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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