A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946507



Internal ID18593357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:173139992..173149172hg38UCSC Ensembl
Innerchr1:173109131..173118311hg19UCSC Ensembl
Innerchr1:171375754..171384934hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg389181
hg199181
hg189181
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1808415, nssv1808414, nssv1808411, nssv1808418, nssv1808417, nssv1808412, nssv1808420, nssv1808416, nssv1808419, nssv1808413
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946507
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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