A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946079



Internal ID18246243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:92841631..92842262hg38UCSC Ensembl
Innerchr1:93307188..93307819hg19UCSC Ensembl
Innerchr1:93079776..93080407hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38632
hg19632
hg18632
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1777827, nssv1777826, nssv1777831, nssv1777830, nssv1777832, nssv1777824, nssv1777825, nssv1777833, nssv1777828, nssv1777829
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesFAM69A, RPL5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946079
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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