A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984313



Internal ID18619501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32081828..32240547hg38UCSC Ensembl
Innerchr16:32093149..32251868hg19UCSC Ensembl
Innerchr16:32000650..32159369hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38158720
hg19158720
hg18158720
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2056433, nssv2056426, nssv2056429, nssv2056432, nssv2056434, nssv2056428, nssv2056427, nssv2056425, nssv2056430, nssv2056431
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHERC2P4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984313
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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