A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984307



Internal ID18619495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29420028..29449408hg38UCSC Ensembl
Innerchr16:29431349..29460729hg19UCSC Ensembl
Innerchr16:29338850..29368230hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3829381
hg1929381
hg1829381
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2055338, nssv2055331, nssv2055332, nssv2055337, nssv2055339, nssv2055340, nssv2055335, nssv2055334, nssv2055333, nssv2055336
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC606724
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984307
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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