A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979537



Internal ID18268053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39342417..39344712hg38UCSC Ensembl
Innerchr21:40714343..40716638hg19UCSC Ensembl
Innerchr21:39636213..39638508hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg382296
hg192296
hg182296
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2248970, nssv2248974, nssv2248967, nssv2248966, nssv2248969, nssv2248971, nssv2248972, nssv2248965, nssv2248968, nssv2248973
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesHMGN1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979537
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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