A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946028



Internal ID18592878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:83188672..83215979hg38UCSC Ensembl
Innerchr1:83654355..83681662hg19UCSC Ensembl
Innerchr1:83426943..83454250hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3827308
hg1927308
hg1827308
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1774148, nssv1774142, nssv1774146, nssv1774143, nssv1774144, nssv1774139, nssv1774141, nssv1774147, nssv1774145, nssv1774140
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)nsv946028
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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