A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980721



Internal ID18615921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:125071596..125075468hg38UCSC Ensembl
Innerchr5:124407289..124411161hg19UCSC Ensembl
Innerchr5:124435188..124439060hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg383873
hg193873
hg183873
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2375125, nssv2375122, nssv2376101, nssv2375126, nssv2375120, nssv2376103, nssv2375121, nssv2376102, nssv2375124, nssv2375123
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)nsv980721
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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