A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979139



Internal ID18614342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:159689150..159697416hg38UCSC Ensembl
Innerchr2:160545661..160553927hg19UCSC Ensembl
Innerchr2:160253907..160262173hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg388267
hg198267
hg188267
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2209613, nssv2209610, nssv2209612, nssv2209614, nssv2209615, nssv2209618, nssv2209617, nssv2209611, nssv2209616, nssv2209609
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)nsv979139
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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