A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946361



Internal ID18593211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143850137..143904122hg38UCSC Ensembl
Innerchr1:149344703..149398698hg19UCSC Ensembl
Innerchr1:147611327..147665322hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3853986
hg1953996
hg1853996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1796332, nssv1796336, nssv1796331, nssv1796328, nssv1796334, nssv1796327, nssv1796333, nssv1796330, nssv1796329, nssv1796335
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFCGR1C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946361
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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