A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960079



Internal ID18595332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:22443407..22530005hg38UCSC Ensembl
Innerchr17:21942736..22029331hg19UCSC Ensembl
Innerchr17:21866863..21953458hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3886599
hg1986596
hg1886596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2086224, nssv2086223, nssv2086217, nssv2086221, nssv2086219, nssv2086218, nssv2086216, nssv2086222, nssv2086215, nssv2086220
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMTRNR2L1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960079
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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