A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945899



Internal ID18592749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40323652..40336025hg38UCSC Ensembl
Innerchr1:40789324..40801697hg19UCSC Ensembl
Innerchr1:40561911..40574284hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3812374
hg1912374
hg1812374
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1760612, nssv1760610, nssv1760616, nssv1760614, nssv1760615, nssv1760617, nssv1760609, nssv1760608, nssv1760611, nssv1760613
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)nsv945899
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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