A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978012



Internal ID18613217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88201139..88222952hg38UCSC Ensembl
Innerchr16:88234745..88256558hg19UCSC Ensembl
Innerchr16:86792246..86814059hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3821814
hg1921814
hg1821814
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2070986, nssv2070993, nssv2070987, nssv2070992, nssv2070984, nssv2070989, nssv2070985, nssv2070988, nssv2070990, nssv2070991
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)nsv978012
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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