A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960047



Internal ID18595300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:6749762..6750637hg38UCSC Ensembl
Innerchr17:6653081..6653956hg19UCSC Ensembl
Innerchr17:6593805..6594680hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38876
hg19876
hg18876
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2074534, nssv2074529, nssv2074536, nssv2074537, nssv2074535, nssv2074531, nssv2074532, nssv2074533, nssv2074530, nssv2074528
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)nsv960047
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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