A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979151



Internal ID18614354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:175183738..175184674hg38UCSC Ensembl
Innerchr2:176048466..176049402hg19UCSC Ensembl
Innerchr2:175756712..175757648hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38937
hg19937
hg18937
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2211947, nssv2211954, nssv2211945, nssv2211948, nssv2211953, nssv2211946, nssv2211950, nssv2211951, nssv2211952, nssv2211949
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979151
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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