A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983305



Internal ID18618499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31614678..31620092hg38UCSC Ensembl
Innerchr12:31767612..31773026hg19UCSC Ensembl
Innerchr12:31658879..31664293hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg385415
hg195415
hg185415
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1922911, nssv1922909, nssv1922915, nssv1922908, nssv1922907, nssv1922912, nssv1922914, nssv1922910, nssv1922913, nssv1922906
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDENND5B-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983305
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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