A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979173



Internal ID18614376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216174492..216177379hg38UCSC Ensembl
Innerchr2:217039215..217042102hg19UCSC Ensembl
Innerchr2:216747460..216750347hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382888
hg192888
hg182888
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2221251, nssv2221246, nssv2221249, nssv2221245, nssv2221252, nssv2221243, nssv2221244, nssv2221248, nssv2221247, nssv2221250
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesXRCC5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979173
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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