A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945272



Internal ID18592123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:209232686..209234222hg38UCSC Ensembl
Innerchr1:209406031..209407567hg19UCSC Ensembl
Innerchr1:207472654..207474190hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381537
hg191537
hg181537
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1815924, nssv1815930, nssv1815926, nssv1815927, nssv1815922, nssv1815929, nssv1815925, nssv1815923, nssv1815928, nssv1815931
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)nsv945272
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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