A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974751



Internal ID18609960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4446930..4451207hg38UCSC Ensembl
Innerchr16:4496931..4501208hg19UCSC Ensembl
Innerchr16:4436932..4441209hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384278
hg194278
hg184278
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2042205, nssv2042206, nssv2042202, nssv2042207, nssv2042200, nssv2042203, nssv2042204, nssv2042199, nssv2042208, nssv2042201
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDNAJA3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974751
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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