A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984300



Internal ID18272802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28592283..28615463hg38UCSC Ensembl
Innerchr16:28603604..28626784hg19UCSC Ensembl
Innerchr16:28511105..28534285hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3823181
hg1923181
hg1823181
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2053839, nssv2053841, nssv2053840, nssv2053842, nssv2054903, nssv2053838, nssv2054901, nssv2053843, nssv2054902, nssv2054900
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesSULT1A1, SULT1A2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984300
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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