A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983006



Internal ID18618200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:43733863..43736417hg38UCSC Ensembl
Innerchr11:43755413..43757967hg19UCSC Ensembl
Innerchr11:43711989..43714543hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg382555
hg192555
hg182555
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1882796, nssv1882791, nssv1882795, nssv1882793, nssv1882799, nssv1882797, nssv1882798, nssv1882794, nssv1882800, nssv1882792
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHSD17B12
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983006
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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