A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969016



Internal ID18604244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172975758..172977494hg38UCSC Ensembl
Innerchr5:172402761..172404497hg19UCSC Ensembl
Innerchr5:172335367..172337103hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg381737
hg191737
hg181737
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2385342, nssv2385344, nssv2385347, nssv2385346, nssv2385340, nssv2385339, nssv2385341, nssv2385348, nssv2385343, nssv2385345
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)nsv969016
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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