A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946522



Internal ID18246686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179201277..179201906hg38UCSC Ensembl
Innerchr1:179170412..179171041hg19UCSC Ensembl
Innerchr1:177437035..177437664hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38630
hg19630
hg18630
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1807121, nssv1807114, nssv1807120, nssv1807118, nssv1807113, nssv1807122, nssv1807117, nssv1807116, nssv1807119, nssv1807115
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesABL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946522
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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