A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978128



Internal ID18266647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29521497..29622812hg38UCSC Ensembl
Innerchr16:29532818..29634133hg19UCSC Ensembl
Innerchr16:29440319..29541634hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38101316
hg19101316
hg18101316
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2054890, nssv2054887, nssv2054891, nssv2054888, nssv2054894, nssv2054889, nssv2054892, nssv2054886, nssv2054893, nssv2054895
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLOC440354, SLC7A5P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978128
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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