A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945893



Internal ID18592743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39718168..39720293hg38UCSC Ensembl
Innerchr1:40183840..40185965hg19UCSC Ensembl
Innerchr1:39956427..39958552hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382126
hg192126
hg182126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1759659, nssv1759663, nssv1759658, nssv1759662, nssv1759655, nssv1759657, nssv1759660, nssv1759664, nssv1759661, nssv1759656
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)nsv945893
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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