A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979428



Internal ID18614631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:32847919..32850318hg38UCSC Ensembl
Innerchr20:31435725..31438124hg19UCSC Ensembl
Innerchr20:30899386..30901785hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg382400
hg192400
hg182400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2234327, nssv2234321, nssv2234323, nssv2234326, nssv2234330, nssv2234325, nssv2234322, nssv2234324, nssv2234328, nssv2234329
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMAPRE1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979428
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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