A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946511



Internal ID18593361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175009931..175010431hg38UCSC Ensembl
Innerchr1:174979067..174979567hg19UCSC Ensembl
Innerchr1:173245690..173246190hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1808598, nssv1808593, nssv1808599, nssv1808594, nssv1808597, nssv1808591, nssv1808596, nssv1808592, nssv1808590, nssv1808595
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCACYBP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946511
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