A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979128



Internal ID18614331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:135136654..135145941hg38UCSC Ensembl
Innerchr2:135894224..135903511hg19UCSC Ensembl
Innerchr2:135610694..135619981hg18UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg389288
hg199288
hg189288
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2205832, nssv2205831, nssv2205835, nssv2205836, nssv2205830, nssv2205839, nssv2205838, nssv2205833, nssv2205834, nssv2205837
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRAB3GAP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979128
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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