A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946238



Internal ID18593088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149131182..149158510hg38UCSC Ensembl
Innerchr1:144538473..144565792hg19UCSC Ensembl
Innerchr1:143249830..143277149hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3827329
hg1927320
hg1827320
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1789116, nssv1789111, nssv1789113, nssv1789114, nssv1789112, nssv1789120, nssv1789115, nssv1789117, nssv1789118, nssv1789119
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100288142
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946238
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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