A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946577



Internal ID18246741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202183226..202197981hg38UCSC Ensembl
Innerchr1:202152354..202167109hg19UCSC Ensembl
Innerchr1:200418977..200433732hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3814756
hg1914756
hg1814756
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1811641, nssv1812570, nssv1812574, nssv1812571, nssv1812572, nssv1811642, nssv1811643, nssv1812569, nssv1812573, nssv1812568
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLGR6, PTPRVP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946577
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