A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964048



Internal ID18599286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56709621..56721499hg38UCSC Ensembl
Innerchr4:57575787..57587665hg19UCSC Ensembl
Innerchr4:57270544..57282422hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3811879
hg1911879
hg1811879
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2319131, nssv2319137, nssv2319136, nssv2319130, nssv2319134, nssv2319135, nssv2319132, nssv2319129, nssv2319128, nssv2319133
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964048
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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