A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945375



Internal ID18592226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234285280..234287856hg38UCSC Ensembl
Innerchr1:234421026..234423602hg19UCSC Ensembl
Innerchr1:232487649..232490225hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382577
hg192577
hg182577
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1823684, nssv1823688, nssv1823685, nssv1823682, nssv1823680, nssv1823681, nssv1823687, nssv1823686, nssv1823683, nssv1823689
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSLC35F3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945375
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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