A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961533



Internal ID18596779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177408226..177411899hg38UCSC Ensembl
Innerchr2:178272954..178276627hg19UCSC Ensembl
Innerchr2:177981200..177984873hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg383674
hg193674
hg183674
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2214768, nssv2214771, nssv2214774, nssv2214767, nssv2214770, nssv2214772, nssv2214765, nssv2214773, nssv2214769, nssv2214766
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAGPS
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961533
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