A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945336



Internal ID18592187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227432529..227435097hg38UCSC Ensembl
Innerchr1:227620230..227622798hg19UCSC Ensembl
Innerchr1:225686853..225689421hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg382569
hg192569
hg182569
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1821712, nssv1821714, nssv1821721, nssv1821720, nssv1821718, nssv1821716, nssv1821719, nssv1821715, nssv1821713, nssv1821717
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)nsv945336
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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