A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946141



Internal ID18246305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111647961..111649734hg38UCSC Ensembl
Innerchr1:112190583..112192356hg19UCSC Ensembl
Innerchr1:111992106..111993879hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381774
hg191774
hg181774
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1782154, nssv1782149, nssv1782156, nssv1782151, nssv1782153, nssv1782147, nssv1782150, nssv1782155, nssv1782148, nssv1782152
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRAP1A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946141
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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