A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945942



Internal ID18246106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:51978949..51985287hg38UCSC Ensembl
Innerchr1:52444621..52450959hg19UCSC Ensembl
Innerchr1:52217209..52223547hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg386339
hg196339
hg186339
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1768077, nssv1768084, nssv1768080, nssv1768081, nssv1768082, nssv1768085, nssv1768078, nssv1768083, nssv1768086, nssv1768079
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRAB3B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945942
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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