A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972047



Internal ID18607263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:74977033..74979386hg38UCSC Ensembl
Innerchr11:74688078..74690431hg19UCSC Ensembl
Innerchr11:74365726..74368079hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg382354
hg192354
hg182354
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1894892, nssv1894897, nssv1894890, nssv1894895, nssv1894896, nssv1894894, nssv1894891, nssv1894893, nssv1894889, nssv1894898
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSPCS2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972047
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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