A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946614



Internal ID18246778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206527583..206530688hg38UCSC Ensembl
Innerchr1:206700916..206704021hg19UCSC Ensembl
Innerchr1:204767539..204770644hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383106
hg193106
hg183106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1815387, nssv1815385, nssv1815384, nssv1815386, nssv1815381, nssv1815383, nssv1815380, nssv1815388, nssv1815382, nssv1815379
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRASSF5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946614
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer