A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945441



Internal ID18245606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247497833..247507396hg38UCSC Ensembl
Innerchr1:247661135..247670698hg19UCSC Ensembl
Innerchr1:245727758..245737321hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg389564
hg199564
hg189564
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1827777, nssv1827776, nssv1827779, nssv1827775, nssv1827780, nssv1827781, nssv1827778, nssv1827774, nssv1827773, nssv1827772
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGCSAML
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945441
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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