A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946429



Internal ID18593279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157484485..157491936hg38UCSC Ensembl
Innerchr1:157454275..157461726hg19UCSC Ensembl
Innerchr1:155720899..155728350hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg387452
hg197452
hg187452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1803016, nssv1803014, nssv1803021, nssv1803019, nssv1803023, nssv1803017, nssv1803022, nssv1803018, nssv1803020, nssv1803015
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)nsv946429
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