A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979188



Internal ID18267705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:236036597..236037097hg38UCSC Ensembl
Innerchr2:236945241..236945741hg19UCSC Ensembl
Innerchr2:236609980..236610480hg18UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2225923, nssv2225922, nssv2225929, nssv2225925, nssv2225924, nssv2225926, nssv2225928, nssv2225927, nssv2225920, nssv2225921
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesAGAP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979188
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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