A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946519



Internal ID18246683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178740627..178747662hg38UCSC Ensembl
Innerchr1:178709762..178716797hg19UCSC Ensembl
Innerchr1:176976385..176983420hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg387036
hg197036
hg187036
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1807960, nssv1807963, nssv1807967, nssv1807961, nssv1807964, nssv1807966, nssv1807962, nssv1807968, nssv1807965, nssv1807959
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRALGPS2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946519
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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