A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984066



Internal ID18619256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:45555352..45557057hg38UCSC Ensembl
Innerchr15:45847550..45849255hg19UCSC Ensembl
Innerchr15:43634842..43636547hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg381706
hg191706
hg181706
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2022243, nssv2022247, nssv2022242, nssv2022244, nssv2022246, nssv2022250, nssv2022249, nssv2022248, nssv2022251, nssv2022245
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHMGN2P46
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984066
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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