A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945891



Internal ID18246055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39516701..39519667hg38UCSC Ensembl
Innerchr1:39982373..39985339hg19UCSC Ensembl
Innerchr1:39754960..39757926hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382967
hg192967
hg182967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1759593, nssv1759591, nssv1759592, nssv1759588, nssv1759585, nssv1759586, nssv1759590, nssv1759594, nssv1759587, nssv1759589
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesBMP8A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945891
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