A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983586



Internal ID18272093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49699496..49700188hg38UCSC Ensembl
Innerchr13:50273632..50274324hg19UCSC Ensembl
Innerchr13:49171633..49172325hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38693
hg19693
hg18693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1963146, nssv1963148, nssv1963154, nssv1963149, nssv1963155, nssv1963152, nssv1963151, nssv1963150, nssv1963147, nssv1963153
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKPNA3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983586
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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