A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984269



Internal ID18272771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15359178..15382257hg38UCSC Ensembl
Innerchr16:15453035..15476114hg19UCSC Ensembl
Innerchr16:15360536..15383615hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3823080
hg1923080
hg1823080
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2045619, nssv2045624, nssv2045623, nssv2045618, nssv2045625, nssv2045620, nssv2045621, nssv2045626, nssv2045617, nssv2045622
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNPIPA5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984269
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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