A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981468



Internal ID18616665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:50843453..50843953hg38UCSC Ensembl
Innerchr7:50911150..50911650hg19UCSC Ensembl
Innerchr7:50878644..50879144hg18UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2447669, nssv2447673, nssv2447665, nssv2447670, nssv2447674, nssv2447668, nssv2447671, nssv2447667, nssv2447672, nssv2447666
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)nsv981468
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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