A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946470



Internal ID18593320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161670153..161677041hg38UCSC Ensembl
Innerchr1:161639943..161646831hg19UCSC Ensembl
Innerchr1:159906567..159913455hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg386889
hg196889
hg186889
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1805705, nssv1805708, nssv1805706, nssv1805713, nssv1805709, nssv1805710, nssv1805707, nssv1805714, nssv1805711, nssv1805712
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFCGR2B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946470
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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