A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946616



Internal ID18593466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206695507..206696285hg38UCSC Ensembl
Innerchr1:206868852..206869630hg19UCSC Ensembl
Innerchr1:204935475..204936253hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38779
hg19779
hg18779
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1815791, nssv1815790, nssv1815793, nssv1815795, nssv1815796, nssv1815788, nssv1815792, nssv1815794, nssv1815789, nssv1815787
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMAPKAPK2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946616
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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