A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945297



Internal ID18592148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:220253472..220261337hg38UCSC Ensembl
Innerchr1:220426814..220434679hg19UCSC Ensembl
Innerchr1:218493437..218501302hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg387866
hg197866
hg187866
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1817502, nssv1817493, nssv1817499, nssv1817496, nssv1817501, nssv1817498, nssv1817494, nssv1817497, nssv1817495, nssv1817500
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRAB3GAP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945297
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