A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984302



Internal ID18272804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29035478..29108105hg38UCSC Ensembl
Innerchr16:29046799..29119426hg19UCSC Ensembl
Innerchr16:28954300..29026927hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3872628
hg1972628
hg1872628
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2053533, nssv2053534, nssv2053535, nssv2053538, nssv2053532, nssv2053537, nssv2053541, nssv2053540, nssv2053536, nssv2053539
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRRN3P2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984302
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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