A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945383



Internal ID18245548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235737903..235740087hg38UCSC Ensembl
Innerchr1:235901203..235903387hg19UCSC Ensembl
Innerchr1:233967826..233970010hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg382185
hg192185
hg182185
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1825235, nssv1825236, nssv1825233, nssv1825228, nssv1825232, nssv1825230, nssv1825237, nssv1825229, nssv1825231, nssv1825234
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLYST
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945383
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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