A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946367



Internal ID18593217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143934207..143964856hg38UCSC Ensembl
Innerchr1:149428779..149459426hg19UCSC Ensembl
Innerchr1:147695403..147726050hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3830650
hg1930648
hg1830648
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1796660, nssv1796652, nssv1796657, nssv1796651, nssv1796653, nssv1796659, nssv1796658, nssv1796655, nssv1796656, nssv1796654
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)nsv946367
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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