A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960043



Internal ID18248610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4827573..4833727hg38UCSC Ensembl
Innerchr17:4730868..4737022hg19UCSC Ensembl
Innerchr17:4677836..4683690hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg386155
hg196155
hg185855
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2073759, nssv2073762, nssv2073763, nssv2073757, nssv2073758, nssv2073761, nssv2073764, nssv2073756, nssv2073760, nssv2073765
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMINK1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960043
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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