A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945274



Internal ID18592125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210264769..210267192hg38UCSC Ensembl
Innerchr1:210438114..210440537hg19UCSC Ensembl
Innerchr1:208504737..208507160hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg382424
hg192424
hg182424
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1814163, nssv1814172, nssv1814168, nssv1814165, nssv1814167, nssv1814171, nssv1814170, nssv1814164, nssv1814166, nssv1814169
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)nsv945274
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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