A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946113



Internal ID18592963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104705430..104710426hg38UCSC Ensembl
Innerchr1:105248052..105253048hg19UCSC Ensembl
Innerchr1:105049575..105054571hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg384997
hg194997
hg184997
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1779702, nssv1779703, nssv1779710, nssv1779711, nssv1779707, nssv1779706, nssv1779704, nssv1779705, nssv1779709, nssv1779708
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)nsv946113
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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