A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978125



Internal ID18613330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29172844..29194044hg38UCSC Ensembl
Innerchr16:29184165..29205365hg19UCSC Ensembl
Innerchr16:29091666..29112866hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3821201
hg1921201
hg1821201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2054130, nssv2054129, nssv2054135, nssv2054133, nssv2054128, nssv2054134, nssv2054131, nssv2054132, nssv2054126, nssv2054127
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)nsv978125
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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