A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946226



Internal ID18593076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149655210..149671188hg38UCSC Ensembl
Innerchr1:144274482..144290489hg19UCSC Ensembl
Innerchr1:142985551..143001846hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3815979
hg1916008
hg1816296
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1786894, nssv1786895, nssv1786893, nssv1786896, nssv1786899, nssv1786902, nssv1786901, nssv1786900, nssv1786898, nssv1786897
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100288142
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946226
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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