A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978372



Internal ID18613577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16656256..16684066hg38UCSC Ensembl
Innerchr17:16559570..16587380hg19UCSC Ensembl
Innerchr17:16500295..16528105hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3827811
hg1927811
hg1827811
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2080311, nssv2080319, nssv2080318, nssv2080312, nssv2080315, nssv2080313, nssv2080314, nssv2080316, nssv2080317, nssv2080320
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978372
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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