A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968241



Internal ID18603469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:124220268..124220945hg38UCSC Ensembl
Innerchr5:123555961..123556638hg19UCSC Ensembl
Innerchr5:123583860..123584537hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38678
hg19678
hg18678
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2376007, nssv2376005, nssv2376006, nssv2376012, nssv2376004, nssv2376013, nssv2376011, nssv2376010, nssv2376009, nssv2376008
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)nsv968241
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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