A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946023



Internal ID18246187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:81720539..81724461hg38UCSC Ensembl
Innerchr1:82186224..82190146hg19UCSC Ensembl
Innerchr1:81958812..81962734hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383923
hg193923
hg183923
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1772895, nssv1772897, nssv1772896, nssv1772901, nssv1772894, nssv1772900, nssv1772898, nssv1772902, nssv1772893, nssv1772899
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946023
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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