A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945998



Internal ID18592848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:73099277..73107706hg38UCSC Ensembl
Innerchr1:73564960..73573389hg19UCSC Ensembl
Innerchr1:73337548..73345977hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg388430
hg198430
hg188430
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1770542, nssv1770536, nssv1770537, nssv1770534, nssv1770538, nssv1770535, nssv1770540, nssv1770543, nssv1770541, nssv1770539
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945998
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