A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980720



Internal ID18615920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:121575498..121576268hg38UCSC Ensembl
Innerchr5:120911193..120911963hg19UCSC Ensembl
Innerchr5:120939092..120939862hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38771
hg19771
hg18771
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2375202, nssv2375203, nssv2375208, nssv2375209, nssv2375207, nssv2375204, nssv2375210, nssv2375201, nssv2375206, nssv2375205
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980720
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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