A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946011



Internal ID18592861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:79521206..79523955hg38UCSC Ensembl
Innerchr1:79986891..79989640hg19UCSC Ensembl
Innerchr1:79759479..79762228hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382750
hg192750
hg182750
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1771590, nssv1771588, nssv1771586, nssv1771587, nssv1771594, nssv1771592, nssv1771589, nssv1771593, nssv1771585, nssv1771591
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)nsv946011
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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