A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972805



Internal ID18608021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:123027961..123030249hg38UCSC Ensembl
Innerchr9:125790240..125792528hg19UCSC Ensembl
Innerchr9:124830061..124832349hg18UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg382289
hg192289
hg182289
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2566117, nssv2566115, nssv2566112, nssv2566121, nssv2566120, nssv2566114, nssv2566116, nssv2566119, nssv2566118, nssv2566113
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRABGAP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972805
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