A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945433



Internal ID18245598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246849405..246851733hg38UCSC Ensembl
Innerchr1:247012707..247015035hg19UCSC Ensembl
Innerchr1:245079330..245081658hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382329
hg192329
hg182329
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1827438, nssv1827433, nssv1827437, nssv1827434, nssv1827435, nssv1827440, nssv1827432, nssv1827439, nssv1827436, nssv1827431
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAHCTF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945433
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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