A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945896



Internal ID18246060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39960837..39965664hg38UCSC Ensembl
Innerchr1:40426509..40431336hg19UCSC Ensembl
Innerchr1:40199096..40203923hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384828
hg194828
hg184828
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1760826, nssv1760821, nssv1760822, nssv1760827, nssv1760825, nssv1760828, nssv1760829, nssv1760824, nssv1760830, nssv1760823
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMFSD2A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945896
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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