A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966295



Internal ID18601525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88163148..88166692hg38UCSC Ensembl
Innerchr4:89084300..89087844hg19UCSC Ensembl
Innerchr4:89303324..89306868hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg383545
hg193545
hg183545
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2328235, nssv2328231, nssv2328234, nssv2328226, nssv2328232, nssv2328230, nssv2328227, nssv2328233, nssv2328228, nssv2328229
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesABCG2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966295
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