A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980696



Internal ID18269210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:88900759..88919032hg38UCSC Ensembl
Innerchr5:88196576..88214849hg19UCSC Ensembl
Innerchr5:88232332..88250605hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3818274
hg1918274
hg1818274
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2366879, nssv2366876, nssv2366883, nssv2366882, nssv2366878, nssv2366875, nssv2366877, nssv2366880, nssv2366881, nssv2366874
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesMEF2C, MEF2C-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980696
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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