A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945347



Internal ID18592198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227964455..227985668hg38UCSC Ensembl
Innerchr1:228152156..228173369hg19UCSC Ensembl
Innerchr1:226218779..226239992hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3821214
hg1921214
hg1821214
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1820628, nssv1820624, nssv1820631, nssv1820632, nssv1820625, nssv1820623, nssv1820626, nssv1820630, nssv1820629, nssv1820627
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)nsv945347
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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