A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946523



Internal ID18246687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179448114..179457254hg38UCSC Ensembl
Innerchr1:179417249..179426389hg19UCSC Ensembl
Innerchr1:177683872..177693012hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg389141
hg199141
hg189141
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1807217, nssv1807213, nssv1807212, nssv1807219, nssv1807216, nssv1807210, nssv1807214, nssv1807215, nssv1807218, nssv1807211
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAXDND1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946523
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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